Linked Data
ClinVar Variation Id:
289328
dbSNP Id:
rs138817140
ExAC:
1:120509012 G / A
gnomAD v2:
1-120509012-G-A
gnomAD v3:
1-119966389-G-A
gnomAD v4:
1-119966389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119966389G>A , CM000663.2:g.119966389G>A | GRCh38 |
| NC_000001.10:g.120509012G>A , CM000663.1:g.120509012G>A | GRCh37 |
| NC_000001.9:g.120310535G>A | NCBI36 |
| NG_008163.1:g.108265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.1554C>T MANE Select | ENSP00000256646.2:p.Cys518= | |
| ENST00000640021.1:c.774C>T | ENSP00000492223.1:n.774C>T | |
| ENST00000256646.6:c.1554C>T | ENSP00000256646.2:p.Cys518= | |
| ENST00000479412.2:n.1692C>T | ||
| ENST00000579475.7:c.1437C>T | ENSP00000477065.2:p.Cys479= | |
| NM_001200001.1:c.1554C>T | NP_001186930.1:p.Cys518= | |
| NM_024408.3:c.1554C>T | NP_077719.2:p.Cys518= | |
| XM_005270901.2:c.1437C>T | XP_005270958.1:p.Cys479= | |
| XM_011541519.1:c.1542C>T | XP_011539821.1:p.Cys514= | |
| XM_011541520.1:c.1437C>T | XP_011539822.1:p.Cys479= | |
| NM_024408.4:c.1554C>T MANE Select | NP_077719.2:p.Cys518= | |
| NM_001200001.2:c.1554C>T | NP_001186930.1:p.Cys518= |