Linked Data
dbSNP Id:
rs587778687
gnomAD v2:
7-128829091-C-A
gnomAD v3:
7-129189250-C-A
gnomAD v4:
7-129189250-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129189250C>A , CM000669.2:g.129189250C>A | GRCh38 |
| NC_000007.13:g.128829091C>A , CM000669.1:g.128829091C>A | GRCh37 |
| NC_000007.12:g.128616327C>A | NCBI36 |
| NG_023340.1:g.5379C>A | |
| NG_023340.2:g.5379C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.99C>A MANE Select | ENSP00000249373.3:p.Ser33Arg | |
| ENST00000655644.1:c.99C>A | ENSP00000499377.1:p.Ser33Arg | |
| ENST00000249373.7:c.99C>A | ENSP00000249373.3:p.Ser33Arg | |
| NM_005631.4:c.99C>A | NP_005622.1:p.Ser33Arg | |
| NM_005631.5:c.99C>A MANE Select | NP_005622.1:p.Ser33Arg |