UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
218090
dbSNP Id:
rs746930990
ExAC:
20:3204055 C / T
gnomAD v2:
20-3204055-C-T
gnomAD v3:
20-3223409-C-T
gnomAD v4:
20-3223409-C-T
PubMed:
PMID:26224535
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3223409C>T , CM000682.2:g.3223409C>T | GRCh38 |
| NC_000020.10:g.3204055C>T , CM000682.1:g.3204055C>T | GRCh37 |
| NC_000020.9:g.3152055C>T | NCBI36 |
| NG_012093.1:g.19000C>T | |
| NG_012093.2:g.19543C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380113.8:c.532C>T MANE Select | ENSP00000369456.3:p.Arg178Cys | |
| ENST00000380113.7:c.532C>T | ENSP00000369456.3:p.Arg178Cys | |
| ENST00000399838.3:c.409C>T | ENSP00000382732.3:p.Arg137Cys | |
| ENST00000455664.6:c.481C>T | ENSP00000413282.1:p.Arg161Cys | |
| ENST00000460550.5:n.506C>T | ||
| ENST00000461029.1:n.338C>T | ||
| ENST00000472295.1:n.209C>T | ||
| ENST00000483354.5:n.567C>T | ||
| ENST00000490838.6:n.516C>T | ||
| NM_001267623.1:c.409C>T | NP_001254552.1:p.Arg137Cys | |
| NM_033453.3:c.532C>T | NP_258412.1:p.Arg178Cys | |
| NM_181493.2:c.481C>T | NP_852470.1:p.Arg161Cys | |
| NR_052000.1:n.567C>T | ||
| NR_052001.1:n.517C>T | ||
| NR_052002.1:n.659C>T | ||
| XM_006723564.2:c.579C>T | XP_006723627.1:p.Ile193= | |
| XM_006723565.2:c.456C>T | XP_006723628.1:p.Ile152= | |
| XM_011529235.1:c.412-3274C>T | XP_011527537.1:n.412-3274C>T | |
| NM_001324236.1:c.195C>T | NP_001311165.1:p.Ile65= | |
| NM_001324237.1:c.195C>T | NP_001311166.1:p.Ile65= | |
| NM_001324238.1:c.195C>T | NP_001311167.1:p.Ile65= | |
| NM_001324240.1:c.412-3274C>T | NP_001311169.1:n.412-3274C>T | |
| NM_001351739.1:c.195C>T | NP_001338668.1:p.Ile65= | |
| NM_181493.3:c.481C>T | NP_852470.1:p.Arg161Cys | |
| XM_006723564.3:c.579C>T | XP_006723627.1:p.Ile193= | |
| XM_006723565.3:c.456C>T | XP_006723628.1:p.Ile152= | |
| XM_024451880.1:c.195C>T | XP_024307648.1:p.Ile65= | |
| NM_033453.4:c.532C>T MANE Select | NP_258412.1:p.Arg178Cys | |
| NM_001267623.2:c.409C>T | NP_001254552.1:p.Arg137Cys | |
| NM_001324236.2:c.195C>T | NP_001311165.1:p.Ile65= | |
| NM_001324237.2:c.195C>T | NP_001311166.1:p.Ile65= | |
| NM_001324238.2:c.195C>T | NP_001311167.1:p.Ile65= | |
| NM_001324240.2:c.412-3274C>T | NP_001311169.1:n.412-3274C>T | |
| NM_001351739.2:c.195C>T | NP_001338668.1:p.Ile65= | |
| NM_181493.4:c.481C>T | NP_852470.1:p.Arg161Cys | |
| NR_052000.2:n.759C>T | ||
| NR_052002.2:n.521C>T |