Linked Data
ClinVar Variation Id:
30843
dbSNP Id:
rs371812716
ExAC:
7:130038776 G / A
gnomAD v2:
7-130038776-G-A
gnomAD v3:
7-130398935-G-A
gnomAD v4:
7-130398935-G-A
PubMed:
PMID:22246503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130398935G>A , CM000669.2:g.130398935G>A | GRCh38 |
| NC_000007.13:g.130038776G>A , CM000669.1:g.130038776G>A | GRCh37 |
| NC_000007.12:g.129826012G>A | NCBI36 |
| NG_032164.1:g.47276C>T | |
| NG_032164.2:g.47276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.1078C>T MANE Select | ENSP00000223208.4:p.Arg360Cys | |
| ENST00000343969.10:c.871C>T | ENSP00000342738.6:p.Arg291Cys | |
| ENST00000480206.2:c.*1590C>T | ENSP00000502099.1:n.*1590C>T | |
| ENST00000484549.6:c.*1250C>T | ENSP00000419078.2:n.*1250C>T | |
| ENST00000492389.6:c.882C>T | ENSP00000419192.2:n.882C>T | |
| ENST00000541543.6:c.1069C>T | ENSP00000445888.2:p.Arg357Cys | |
| ENST00000674539.1:c.*86C>T | ENSP00000502834.1:n.*86C>T | |
| ENST00000674630.1:c.*624C>T | ENSP00000502521.1:n.*624C>T | |
| ENST00000675138.1:c.1123C>T | ENSP00000501597.1:p.Arg375Cys | |
| ENST00000675168.1:c.1030C>T | ENSP00000501563.1:p.Arg344Cys | |
| ENST00000675328.1:n.888C>T | ||
| ENST00000675542.1:n.1043C>T | ||
| ENST00000675563.1:c.469C>T | ENSP00000502483.1:p.Arg157Cys | |
| ENST00000675596.1:c.862C>T | ENSP00000501735.1:p.Arg288Cys | |
| ENST00000675649.1:c.895C>T | ENSP00000502385.1:p.Arg299Cys | |
| ENST00000675721.1:c.*1021C>T | ENSP00000502026.1:n.*1021C>T | |
| ENST00000675803.1:c.1039C>T | ENSP00000502477.1:p.Arg347Cys | |
| ENST00000675813.1:c.*982C>T | ENSP00000502785.1:n.*982C>T | |
| ENST00000675935.1:c.1069C>T | ENSP00000501731.1:p.Arg357Cys | |
| ENST00000675962.1:c.814C>T | ENSP00000502478.1:p.Arg272Cys | |
| ENST00000676115.1:c.*999C>T | ENSP00000502631.1:n.*999C>T | |
| ENST00000676243.1:c.1087C>T | ENSP00000501717.1:p.Arg363Cys | |
| ENST00000676312.1:c.1039C>T | ENSP00000502312.1:p.Arg347Cys | |
| ENST00000223208.9:c.1078C>T | ENSP00000223208.4:p.Arg360Cys | |
| ENST00000343969.9:c.862C>T | ENSP00000342738.5:p.Arg288Cys | |
| ENST00000484549.5:c.*624C>T | ENSP00000419078.1:n.*624C>T | |
| ENST00000485736.5:n.761C>T | ||
| ENST00000541543.5:c.814C>T | ENSP00000445888.1:p.Arg272Cys | |
| ENST00000603513.1:n.2275C>T | ||
| NM_001257158.1:c.862C>T | NP_001244087.1:p.Arg288Cys | |
| NM_001257159.1:c.814C>T | NP_001244088.1:p.Arg272Cys | |
| NM_018718.2:c.1078C>T | NP_061188.1:p.Arg360Cys | |
| NR_046443.1:n.1246C>T | ||
| XM_011516708.1:c.1123C>T | XP_011515010.1:p.Arg375Cys | |
| XM_011516709.1:c.973C>T | XP_011515011.1:p.Arg325Cys | |
| XM_011516710.1:c.973C>T | XP_011515012.1:p.Arg325Cys | |
| XM_011516711.1:c.973C>T | XP_011515013.1:p.Arg325Cys | |
| XM_011516712.1:c.907C>T | XP_011515014.1:p.Arg303Cys | |
| XM_011516709.3:c.973C>T | XP_011515011.1:p.Arg325Cys | |
| XM_011516710.3:c.973C>T | XP_011515012.1:p.Arg325Cys | |
| XM_024447004.1:c.1039C>T | XP_024302772.1:p.Arg347Cys | |
| NM_018718.3:c.1078C>T MANE Select | NP_061188.1:p.Arg360Cys | |
| NM_001257158.2:c.862C>T | NP_001244087.1:p.Arg288Cys | |
| NR_046443.2:n.1052C>T | ||
| NM_001257159.2:c.814C>T | NP_001244088.1:p.Arg272Cys |