Linked Data
ClinVar Variation Id:
13006
dbSNP Id:
rs486907
ExAC:
1:182554557 C / T
gnomAD v2:
1-182554557-C-T
gnomAD v3:
1-182585422-C-T
gnomAD v4:
1-182585422-C-T
PubMed:
PMID:12415269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182585422C>T , CM000663.2:g.182585422C>T | GRCh38 |
| NC_000001.10:g.182554557C>T , CM000663.1:g.182554557C>T | GRCh37 |
| NC_000001.9:g.180821180C>T | NCBI36 |
| NG_009024.2:g.6552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.1385G>A MANE Select | ENSP00000356530.3:p.Arg462Gln | |
| ENST00000539397.1:c.1385G>A | ENSP00000440844.1:p.Arg462Gln | |
| NM_021133.3:c.1385G>A | NP_066956.1:p.Arg462Gln | |
| XM_005245411.2:c.1385G>A | XP_005245468.1:p.Arg462Gln | |
| XR_001737359.1:n.1668G>A | ||
| XR_001737360.1:n.1668G>A | ||
| NM_021133.4:c.1385G>A MANE Select | NP_066956.1:p.Arg462Gln |