Linked Data
ClinVar Variation Id:
161508
ClinVar RCV Id:
RCV000149042
dbSNP Id:
rs193921099
COSMIC:
COSM1178302
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133759195G>T , CM000665.2:g.133759195G>T | GRCh38 |
| NC_000003.11:g.133478039G>T , CM000665.1:g.133478039G>T | GRCh37 |
| NC_000003.10:g.134960729G>T | NCBI36 |
| NG_013080.1:g.18063G>T | |
| NG_013080.2:g.102198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1069G>T MANE Select | ENSP00000385834.3:p.Glu357Ter | |
| ENST00000402696.7:c.1069G>T | ENSP00000385834.3:p.Glu357Ter | |
| ENST00000485977.1:c.*125G>T | ENSP00000418716.1:n.*125G>T | |
| NM_001063.3:c.1069G>T | NP_001054.1:p.Glu357Ter | |
| XM_011513100.1:c.1069G>T | XP_011511402.1:p.Glu357Ter | |
| NM_001354703.1:c.937G>T | NP_001341632.1:p.Glu313Ter | |
| NM_001354704.1:c.688G>T | NP_001341633.1:p.Glu230Ter | |
| NM_001063.4:c.1069G>T MANE Select | NP_001054.2:p.Glu357Ter | |
| NM_001354703.2:c.937G>T | NP_001341632.2:p.Glu313Ter | |
| NM_001354704.2:c.688G>T | NP_001341633.2:p.Glu230Ter |