Linked Data
ClinVar Variation Id:
156154
dbSNP Id:
rs201372601
gnomAD v2:
11-111965693-G-T
gnomAD v3:
11-112094969-G-T
gnomAD v4:
11-112094969-G-T
COSMIC:
COSM3443407
PubMed:
PMID:24367056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094969G>T , CM000673.2:g.112094969G>T | GRCh38 |
| NC_000011.9:g.111965693G>T , CM000673.1:g.111965693G>T | GRCh37 |
| NC_000011.8:g.111470903G>T | NCBI36 |
| NG_012337.2:g.13123G>T | |
| NG_012337.3:g.13123G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*218G>T | ENSP00000432946.2:n.*218G>T | |
| ENST00000534010.2:c.314+5958G>T | ENSP00000433202.2:n.314+5958G>T | |
| ENST00000375549.8:c.479G>T MANE Select | ENSP00000364699.3:p.Ter160Leu | |
| ENST00000528021.6:c.314+5958G>T | ENSP00000432465.1:n.314+5958G>T | |
| ENST00000375549.7:c.479G>T | ENSP00000364699.3:p.Ter160Leu | |
| ENST00000525291.5:c.362G>T | ENSP00000436669.1:p.Ter121Leu | |
| ENST00000525987.5:n.319+5958G>T | ||
| ENST00000526592.5:c.*177G>T | ENSP00000432005.1:n.*177G>T | |
| ENST00000528021.5:c.314+5958G>T | ENSP00000432465.1:n.314+5958G>T | |
| ENST00000528048.5:c.*76G>T | ENSP00000436217.1:n.*76G>T | |
| ENST00000528182.5:c.*76G>T | ENSP00000435475.1:n.*76G>T | |
| ENST00000530923.5:c.523G>T | ||
| ENST00000531744.5:c.314+5958G>T | ENSP00000456957.1:n.314+5958G>T | |
| ENST00000532699.1:c.314+5958G>T | ENSP00000456434.1:n.314+5958G>T | |
| ENST00000534010.1:c.145+5958G>T | ||
| NM_001276503.1:c.*76G>T | NP_001263432.1:n.*76G>T | |
| NM_001276504.1:c.362G>T | NP_001263433.1:p.Ter121Leu | |
| NM_001276506.1:c.*177G>T | NP_001263435.1:n.*177G>T | |
| NM_003002.3:c.479G>T | NP_002993.1:p.Ter160Leu | |
| NR_077060.1:n.617G>T | ||
| NM_003002.4:c.479G>T MANE Select | NP_002993.1:p.Ter160Leu | |
| NM_001276503.2:c.*76G>T | NP_001263432.1:n.*76G>T | |
| NM_001276504.2:c.362G>T | NP_001263433.1:p.Ter121Leu | |
| NM_001276506.2:c.*177G>T | NP_001263435.1:n.*177G>T | |
| NR_077060.2:n.568G>T |