Linked Data
ClinVar Variation Id:
1684827
ClinVar RCV Id:
RCV002247919
dbSNP Id:
rs754076761
ExAC:
1:41304121 G / A
gnomAD v2:
1-41304121-G-A
gnomAD v3:
1-40838449-G-A
gnomAD v4:
1-40838449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40838449G>A , CM000663.2:g.40838449G>A | GRCh38 |
| NC_000001.10:g.41304121G>A , CM000663.1:g.41304121G>A | GRCh37 |
| NC_000001.9:g.41076708G>A | NCBI36 |
| NG_008139.1:g.59438G>A | |
| NG_008139.2:g.59438G>A | |
| NG_008139.3:g.59663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.2014G>A MANE Select | ENSP00000262916.6:p.Val672Met | |
| ENST00000347132.9:c.2014G>A | ENSP00000262916.6:p.Val672Met | |
| ENST00000443478.3:c.1595G>A | ||
| ENST00000506017.1:n.1333G>A | ||
| ENST00000509682.6:c.1852G>A | ENSP00000423756.2:p.Val618Met | |
| NM_004700.3:c.2014G>A | NP_004691.2:p.Val672Met | |
| NM_172163.2:c.1852G>A | NP_751895.1:p.Val618Met | |
| XM_017002792.1:c.997G>A | XP_016858281.1:p.Val333Met | |
| NM_004700.4:c.2014G>A MANE Select | NP_004691.2:p.Val672Met | |
| NM_172163.3:c.1852G>A | NP_751895.1:p.Val618Met |