Linked Data
dbSNP Id:
rs1010434257
gnomAD v2:
7-21658950-T-A
gnomAD v3:
7-21619332-T-A
gnomAD v4:
7-21619332-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619332T>A , CM000669.2:g.21619332T>A | GRCh38 |
| NC_000007.13:g.21658950T>A , CM000669.1:g.21658950T>A | GRCh37 |
| NC_000007.12:g.21625475T>A | NCBI36 |
| NG_012886.2:g.81118T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4377+110T>A MANE Select | ENSP00000475939.1:n.4377+110T>A | |
| ENST00000328843.10:c.4392+110T>A | ENSP00000330671.7:n.4392+110T>A | |
| ENST00000409508.7:c.4377+110T>A | ENSP00000475939.1:n.4377+110T>A | |
| ENST00000465593.1:n.403+110T>A | ||
| ENST00000620169.4:c.4392+110T>A | ENSP00000481693.1:n.4392+110T>A | |
| NM_001277115.1:c.4377+110T>A | NP_001264044.1:n.4377+110T>A | |
| NM_001277115.2:c.4377+110T>A MANE Select | NP_001264044.1:n.4377+110T>A |