Linked Data
ClinVar Variation Id:
515991
dbSNP Id:
rs537140001
ExAC:
9:94794759 G / A
gnomAD v2:
9-94794759-G-A
gnomAD v3:
9-92032477-G-A
gnomAD v4:
9-92032477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92032477G>A , CM000671.2:g.92032477G>A | GRCh38 |
| NC_000009.11:g.94794759G>A , CM000671.1:g.94794759G>A | GRCh37 |
| NC_000009.10:g.93834580G>A | NCBI36 |
| NG_007950.1:g.87932C>T , LRG_272:g.87932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686600.1:c.*122C>T | ENSP00000509268.1:n.*122C>T | |
| ENST00000686799.1:n.1734C>T | ||
| ENST00000687427.1:c.*166C>T | ENSP00000509426.1:n.*166C>T | |
| ENST00000687817.1:c.*3808C>T | ENSP00000508926.1:n.*3808C>T | |
| ENST00000687972.1:c.1470C>T | ENSP00000509208.1:p.Ala490= | |
| ENST00000689261.1:n.1317C>T | ||
| ENST00000689401.1:c.*1660C>T | ENSP00000510251.1:n.*1660C>T | |
| ENST00000690095.1:n.1798C>T | ||
| ENST00000690139.1:c.*1111C>T | ENSP00000510483.1:n.*1111C>T | |
| ENST00000692458.1:n.2048C>T | ||
| ENST00000262554.7:c.1410C>T MANE Select | ENSP00000262554.2:p.Ala470= | |
| ENST00000642671.1:c.1629+2333C>T | ENSP00000495764.1:n.1629+2333C>T | |
| ENST00000643599.1:c.1396+2333C>T | ENSP00000494770.1:n.1396+2333C>T | |
| ENST00000644140.1:c.*1151C>T | ENSP00000493933.1:n.*1151C>T | |
| ENST00000646481.1:c.1260+2333C>T | ENSP00000496627.1:n.1260+2333C>T | |
| ENST00000646534.1:c.*1213C>T | ENSP00000495388.1:n.*1213C>T | |
| ENST00000262554.6:c.1410C>T | ENSP00000262554.2:p.Ala470= | |
| ENST00000469778.1:n.367C>T | ||
| NM_001281303.1:c.1378C>T | NP_001268232.1:p.Arg460Cys | |
| NM_006415.3:c.1410C>T | NP_006406.1:p.Ala470= | |
| XM_011518139.1:c.945C>T | XP_011516441.1:p.Ala315= | |
| XM_011518139.3:c.945C>T | XP_011516441.1:p.Ala315= | |
| XM_017014200.2:c.1044C>T | XP_016869689.1:p.Ala348= | |
| XM_017014201.2:c.1044C>T | XP_016869690.1:p.Ala348= | |
| XM_024447378.1:c.945C>T | XP_024303146.1:p.Ala315= | |
| XM_024447379.1:c.945C>T | XP_024303147.1:p.Ala315= | |
| XR_002956744.1:n.1560C>T | ||
| NM_006415.4:c.1410C>T MANE Select | NP_006406.1:p.Ala470= | |
| NM_001281303.2:c.1378C>T | NP_001268232.1:p.Arg460Cys | |
| NM_001368272.1:c.1044C>T | NP_001355201.1:p.Ala348= | |
| NM_001368273.1:c.945C>T | NP_001355202.1:p.Ala315= |