Linked Data
ClinVar Variation Id:
309950
dbSNP Id:
rs139801016
ExAC:
12:57975670 C / T
gnomAD v2:
12-57975670-C-T
gnomAD v3:
12-57581887-C-T
gnomAD v4:
12-57581887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581887C>T , CM000674.2:g.57581887C>T | GRCh38 |
| NC_000012.11:g.57975670C>T , CM000674.1:g.57975670C>T | GRCh37 |
| NC_000012.10:g.56261937C>T | NCBI36 |
| NG_008155.1:g.36824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2927C>T MANE Select | ENSP00000408979.2:p.Thr976Ile | |
| ENST00000674619.1:c.2948C>T | ENSP00000502270.1:p.Thr983Ile | |
| ENST00000675697.1:c.18C>T | ||
| ENST00000675737.1:n.331C>T | ||
| ENST00000675882.1:n.2450C>T | ||
| ENST00000675929.1:n.1485C>T | ||
| ENST00000676055.1:c.18C>T | ||
| ENST00000676457.1:c.2822C>T | ENSP00000501588.1:p.Thr941Ile | |
| ENST00000286452.5:c.2660C>T | ENSP00000286452.5:p.Thr887Ile | |
| ENST00000455537.6:c.2927C>T | ENSP00000408979.2:p.Thr976Ile | |
| ENST00000552227.1:n.210C>T | ||
| NM_004984.2:c.2927C>T | NP_004975.2:p.Thr976Ile | |
| NM_001354705.1:c.2660C>T | NP_001341634.1:p.Thr887Ile | |
| NM_004984.3:c.2927C>T | NP_004975.2:p.Thr976Ile | |
| XR_002957324.1:n.3160C>T | ||
| NM_004984.4:c.2927C>T MANE Select | NP_004975.2:p.Thr976Ile | |
| NM_001354705.2:c.2660C>T | NP_001341634.1:p.Thr887Ile |