Linked Data
dbSNP Id:
rs1316185692
gnomAD v2:
12-53702539-T-C
gnomAD v3:
12-53308755-T-C
gnomAD v4:
12-53308755-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53308755T>C , CM000674.2:g.53308755T>C | GRCh38 |
| NC_000012.11:g.53702539T>C , CM000674.1:g.53702539T>C | GRCh37 |
| NC_000012.10:g.51988806T>C | NCBI36 |
| NG_016775.1:g.17874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1057A>G MANE Select | ENSP00000209873.4:p.Ile353Val | |
| ENST00000546562.6:n.2121A>G | ||
| ENST00000547238.6:n.1693A>G | ||
| ENST00000547520.6:n.1051A>G | ||
| ENST00000547757.2:c.106A>G | ENSP00000448020.2:p.Ile36Val | |
| ENST00000548880.2:n.1507A>G | ||
| ENST00000548931.6:c.577A>G | ENSP00000457518.1:p.Ile193Val | |
| ENST00000549450.6:n.991A>G | ||
| ENST00000552161.6:n.2013A>G | ||
| ENST00000672797.1:n.1546A>G | ||
| ENST00000672900.1:n.1999A>G | ||
| ENST00000209873.8:c.1057A>G | ENSP00000209873.4:p.Ile353Val | |
| ENST00000394384.7:c.958A>G | ENSP00000377908.3:p.Ile320Val | |
| ENST00000547520.5:n.761A>G | ||
| ENST00000548931.5:c.577A>G | ENSP00000457518.1:p.Ile193Val | |
| ENST00000550033.5:n.312A>G | ||
| ENST00000550286.5:c.685A>G | ENSP00000446885.1:p.Ile229Val | |
| ENST00000552876.5:n.1400A>G | ||
| NM_001173466.1:c.958A>G | NP_001166937.1:p.Ile320Val | |
| NM_015665.5:c.1057A>G | NP_056480.1:p.Ile353Val | |
| XM_006719617.2:c.1072A>G | XP_006719680.1:p.Ile358Val | |
| XM_011538777.1:c.1072A>G | XP_011537079.1:p.Ile358Val | |
| XM_011538778.1:c.1057A>G | XP_011537080.1:p.Ile353Val | |
| XM_011538779.1:c.973A>G | XP_011537081.1:p.Ile325Val | |
| XM_011538780.1:c.958A>G | XP_011537082.1:p.Ile320Val | |
| XM_011538781.1:c.406A>G | XP_011537083.1:p.Ile136Val | |
| XM_011538778.2:c.1057A>G | XP_011537080.1:p.Ile353Val | |
| XM_011538780.2:c.958A>G | XP_011537082.1:p.Ile320Val | |
| XR_001748875.2:n.1114A>G | ||
| NM_015665.6:c.1057A>G MANE Select | NP_056480.1:p.Ile353Val | |
| NM_001173466.2:c.958A>G | NP_001166937.1:p.Ile320Val |