HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_133433.3:c.5167C>T
RefSeqGene (:g.) NG_006987.1:g.148733C>T
Predicted effect on protein (:p.) NP_597677.2:p.(Arg1723Ter)
Predicted effect on protein (:p.) NP_597677.2:p.(R1723*)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000005.10:g.37020615C>T GRCh38:5:37020615:C:T
NC_000005.9:g.37020717C>T GRCh37:5:37020717:C:T

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene NG_006987.1:g.148733C>T
Chromosomal GRCh38 NC_000005.10:g.37020615C>T

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_133433.3:c.5167C>T

Transcript-level variants overlapping genome coordinates NC_000005.10:37020615

Genomic coordinates (VCF) with respect to genome build GRCh38


Aggregated data sources and clinical significance


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Alignment method: