Linked Data
dbSNP Id:
rs755197043
ExAC:
2:88874674 A / T
gnomAD v2:
2-88874674-A-T
gnomAD v4:
2-88575156-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575156A>T , CM000664.2:g.88575156A>T | GRCh38 |
| NC_000002.11:g.88874674A>T , CM000664.1:g.88874674A>T | GRCh37 |
| NC_000002.10:g.88655789A>T | NCBI36 |
| NG_016424.1:g.57421T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2155T>A | ||
| ENST00000682276.1:n.1772T>A | ||
| ENST00000682892.1:c.1874T>A | ENSP00000507214.1:p.Met625Lys | |
| ENST00000682952.1:n.1966T>A | ||
| ENST00000684455.1:c.1540T>A | ||
| ENST00000684642.1:c.1724T>A | ENSP00000507355.1:p.Met575Lys | |
| ENST00000684740.1:n.2505T>A | ||
| ENST00000303236.9:c.2327T>A MANE Select | ENSP00000307235.3:p.Met776Lys | |
| ENST00000652099.1:c.2521T>A | ||
| ENST00000652736.1:n.2203T>A | ||
| ENST00000303236.7:c.2327T>A | ENSP00000307235.3:p.Met776Lys | |
| ENST00000415570.1:c.1964T>A | ENSP00000412076.1:p.Met655Lys | |
| ENST00000419748.5:c.1874T>A | ENSP00000408325.1:p.Met625Lys | |
| ENST00000470706.1:n.49-79T>A | ||
| NM_001313915.1:c.1874T>A | NP_001300844.1:p.Met625Lys | |
| NM_004836.5:c.2327T>A | NP_004827.4:p.Met776Lys | |
| NM_004836.6:c.2327T>A | NP_004827.4:p.Met776Lys | |
| NR_110236.1:n.1293A>T | ||
| XM_005264649.3:c.1643T>A | XP_005264706.1:p.Met548Lys | |
| XM_017005376.2:c.1643T>A | XP_016860865.1:p.Met548Lys | |
| NM_004836.7:c.2327T>A MANE Select | NP_004827.4:p.Met776Lys | |
| NM_001313915.2:c.1874T>A | NP_001300844.1:p.Met625Lys |