Linked Data
dbSNP Id:
rs1312928655
gnomAD v2:
12-109994894-T-A
gnomAD v3:
12-109557089-T-A
gnomAD v4:
12-109557089-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557089T>A , CM000674.2:g.109557089T>A | GRCh38 |
| NC_000012.11:g.109994894T>A , CM000674.1:g.109994894T>A | GRCh37 |
| NC_000012.10:g.108479277T>A | NCBI36 |
| NG_007096.1:g.21409A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.692A>T MANE Select | ENSP00000445920.1:p.Glu231Val | |
| ENST00000537496.5:c.*257A>T | ENSP00000444793.1:n.*257A>T | |
| ENST00000540016.5:c.536A>T | ENSP00000474582.1:p.Glu179Val | |
| ENST00000541763.6:c.917A>T | ENSP00000474981.1:n.917A>T | |
| ENST00000544051.5:c.*573A>T | ENSP00000438079.1:n.*573A>T | |
| ENST00000545712.6:c.692A>T | ENSP00000445920.1:p.Glu231Val | |
| NM_052845.3:c.692A>T | NP_443077.1:p.Glu231Val | |
| NR_038118.1:n.852A>T | ||
| XM_011538266.1:c.*39A>T | XP_011536568.1:n.*39A>T | |
| XM_011538267.1:c.*39A>T | XP_011536569.1:n.*39A>T | |
| XM_011538268.1:c.419A>T | XP_011536570.1:p.Glu140Val | |
| XM_011538269.1:c.416A>T | XP_011536571.1:p.Glu139Val | |
| XM_011538267.3:c.*39A>T | XP_011536569.1:n.*39A>T | |
| XM_011538268.2:c.419A>T | XP_011536570.1:p.Glu140Val | |
| XM_011538269.2:c.416A>T | XP_011536571.1:p.Glu139Val | |
| NM_052845.4:c.692A>T MANE Select | NP_443077.1:p.Glu231Val | |
| NR_038118.2:n.803A>T |