Linked Data
dbSNP Id:
rs3779195
gnomAD v2:
7-97993362-T-A
gnomAD v3:
7-98364050-T-A
gnomAD v4:
7-98364050-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98364050T>A , CM000669.2:g.98364050T>A | GRCh38 |
| NC_000007.13:g.97993362T>A , CM000669.1:g.97993362T>A | GRCh37 |
| NC_000007.12:g.97831298T>A | NCBI36 |
| NG_013090.1:g.42066A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005260.9:c.52-1618A>T MANE Select | ENSP00000005260.8:n.52-1618A>T | |
| ENST00000005260.8:c.52-1618A>T | ENSP00000005260.8:n.52-1618A>T | |
| ENST00000462558.5:n.268-1618A>T | ||
| ENST00000479789.1:n.358-1618A>T | ||
| NM_018842.4:c.52-1618A>T | NP_061330.2:n.52-1618A>T | |
| NM_018842.5:c.52-1618A>T MANE Select | NP_061330.2:n.52-1618A>T |