Linked Data
dbSNP Id:
rs751549406
ExAC:
10:124221219 G / A
gnomAD v2:
10-124221219-G-A
gnomAD v4:
10-122461703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461703G>A , CM000672.2:g.122461703G>A | GRCh38 |
| NC_000010.10:g.124221219G>A , CM000672.1:g.124221219G>A | GRCh37 |
| NC_000010.9:g.124211209G>A | NCBI36 |
| NG_011554.1:g.5179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.51G>A MANE Select | ENSP00000357980.3:p.Ala17= | |
| ENST00000648167.1:c.154+2994G>A | ENSP00000498033.1:n.154+2994G>A | |
| ENST00000368984.7:c.51G>A | ENSP00000357980.3:p.Ala17= | |
| NM_002775.4:c.51G>A | NP_002766.1:p.Ala17= | |
| NM_002775.5:c.51G>A MANE Select | NP_002766.1:p.Ala17= |