Linked Data
ClinVar Variation Id:
309947
dbSNP Id:
rs781143696
ExAC:
12:57975280 C / T
gnomAD v2:
12-57975280-C-T
gnomAD v3:
12-57581497-C-T
gnomAD v4:
12-57581497-C-T
COSMIC:
COSM4963399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581497C>T , CM000674.2:g.57581497C>T | GRCh38 |
| NC_000012.11:g.57975280C>T , CM000674.1:g.57975280C>T | GRCh37 |
| NC_000012.10:g.56261547C>T | NCBI36 |
| NG_008155.1:g.36434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2838C>T MANE Select | ENSP00000408979.2:p.Tyr946= | |
| ENST00000674619.1:c.2859C>T | ENSP00000502270.1:p.Tyr953= | |
| ENST00000674776.1:c.346C>T | ENSP00000502434.1:n.346C>T | |
| ENST00000675634.1:c.333C>T | ENSP00000502231.1:p.Tyr111= | |
| ENST00000675737.1:n.242C>T | ||
| ENST00000675882.1:n.2060C>T | ||
| ENST00000675929.1:n.1396C>T | ||
| ENST00000676457.1:c.2733C>T | ENSP00000501588.1:p.Tyr911= | |
| ENST00000286452.5:c.2571C>T | ENSP00000286452.5:p.Tyr857= | |
| ENST00000455537.6:c.2838C>T | ENSP00000408979.2:p.Tyr946= | |
| NM_004984.2:c.2838C>T | NP_004975.2:p.Tyr946= | |
| NM_001354705.1:c.2571C>T | NP_001341634.1:p.Tyr857= | |
| NM_004984.3:c.2838C>T | NP_004975.2:p.Tyr946= | |
| XR_002957324.1:n.3071C>T | ||
| NM_004984.4:c.2838C>T MANE Select | NP_004975.2:p.Tyr946= | |
| NM_001354705.2:c.2571C>T | NP_001341634.1:p.Tyr857= |