Linked Data
ClinVar Variation Id:
133398
ClinVar RCV Id:
RCV000119900
dbSNP Id:
rs565961218
gnomAD v2:
1-2490608-A-G
gnomAD v3:
1-2559169-A-G
gnomAD v4:
1-2559169-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2559169A>G , CM000663.2:g.2559169A>G | GRCh38 |
| NC_000001.10:g.2490608A>G , CM000663.1:g.2490608A>G | GRCh37 |
| NC_000001.9:g.2483810T>C | NCBI36 |
| NG_047096.1:g.7805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355716.5:c.305-654A>G MANE Select | ENSP00000347948.4:n.305-654A>G | |
| ENST00000355716.4:c.305-654A>G | ENSP00000347948.4:n.305-654A>G | |
| ENST00000409119.5:c.305-654A>G | ENSP00000386859.1:n.305-654A>G | |
| ENST00000426449.5:c.305-654A>G | ENSP00000411854.1:n.305-654A>G | |
| ENST00000434817.5:c.305-654A>G | ENSP00000415254.1:n.305-654A>G | |
| ENST00000435221.6:c.305-654A>G | ENSP00000399292.2:n.305-654A>G | |
| ENST00000451778.5:c.305-654A>G | ENSP00000399533.1:n.305-654A>G | |
| ENST00000463471.6:n.1099A>G | ||
| ENST00000466750.5:n.849A>G | ||
| ENST00000475523.5:n.71-183A>G | ||
| ENST00000496064.5:n.413-654A>G | ||
| NM_001297605.1:c.305-654A>G | NP_001284534.1:n.305-654A>G | |
| NM_003820.3:c.305-654A>G | NP_003811.2:n.305-654A>G | |
| XM_006711019.1:c.305-654A>G | XP_006711082.1:n.305-654A>G | |
| XM_006711020.2:c.305-654A>G | XP_006711083.1:n.305-654A>G | |
| XR_426638.1:n.669A>G | ||
| XM_006711019.3:c.305-654A>G | XP_006711082.1:n.305-654A>G | |
| XM_017002718.1:c.1A>G | XP_016858207.1:p.Met1Val | |
| XM_017002720.1:c.-602A>G | XP_016858209.1:n.-602A>G | |
| XR_001737511.1:n.36A>G | ||
| XR_001737512.2:n.599-654A>G | ||
| XR_001737513.2:n.599-654A>G | ||
| XR_426638.3:n.887A>G | ||
| NM_001297605.2:c.305-654A>G | NP_001284534.1:n.305-654A>G | |
| NM_003820.4:c.305-654A>G MANE Select | NP_003811.2:n.305-654A>G |