Linked Data
dbSNP Id:
rs766651979
ExAC:
1:230825850 G / A
gnomAD v2:
1-230825850-G-A
gnomAD v4:
1-230690104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230690104G>A , CM000663.2:g.230690104G>A | GRCh38 |
| NC_000001.10:g.230825850G>A , CM000663.1:g.230825850G>A | GRCh37 |
| NC_000001.9:g.228892473G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1885G>A MANE Select | ENSP00000355629.4:p.Ala629Thr | |
| ENST00000366668.7:c.1882G>A | ENSP00000355628.3:p.Ala628Thr | |
| ENST00000366669.8:c.1885G>A | ENSP00000355629.4:p.Ala629Thr | |
| ENST00000468893.6:c.*1743G>A | ENSP00000476305.1:n.*1743G>A | |
| ENST00000478710.1:n.144G>A | ||
| ENST00000490900.1:n.664G>A | ||
| ENST00000534989.1:c.1708G>A | ENSP00000440349.1:p.Ala570Thr | |
| NM_001145036.1:c.1882G>A | NP_001138508.1:p.Ala628Thr | |
| NM_007357.2:c.1885G>A | NP_031383.1:p.Ala629Thr | |
| NM_007357.3:c.1885G>A MANE Select | NP_031383.1:p.Ala629Thr | |
| NM_001145036.2:c.1882G>A | NP_001138508.1:p.Ala628Thr |