Linked Data
ClinVar Variation Id:
161785
ClinVar RCV Id:
RCV000149321
dbSNP Id:
rs193921026
COSMIC:
COSM1178985
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31531719A>T , CM000679.2:g.31531719A>T | GRCh38 |
| NC_000017.10:g.29858737A>T , CM000679.1:g.29858737A>T | GRCh37 |
| NC_000017.9:g.26882857A>T | NCBI36 |
| NG_051977.1:g.145096A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621161.5:c.1901A>T MANE Select | ENSP00000482620.1:p.Glu634Val | |
| ENST00000394744.6:c.1595A>T | ENSP00000378227.2:p.Glu532Val | |
| ENST00000578148.1:n.270A>T | ||
| ENST00000621161.4:c.1901A>T | ENSP00000482620.1:p.Glu634Val | |
| NM_001303542.2:c.1595A>T | NP_001290471.2:p.Glu532Val | |
| NM_032932.5:c.1901A>T | NP_116321.2:p.Glu634Val | |
| NM_001346747.1:c.1400A>T | NP_001333676.1:p.Glu467Val | |
| NM_001346748.1:c.1478A>T | NP_001333677.1:p.Glu493Val | |
| NM_001346749.1:c.1121A>T | NP_001333678.1:p.Glu374Val | |
| NM_032932.6:c.1901A>T MANE Select | NP_116321.2:p.Glu634Val | |
| NM_001303542.3:c.1595A>T | NP_001290471.2:p.Glu532Val | |
| NM_001346747.2:c.1400A>T | NP_001333676.1:p.Glu467Val | |
| NM_001346748.2:c.1478A>T | NP_001333677.1:p.Glu493Val | |
| NM_001346749.2:c.1121A>T | NP_001333678.1:p.Glu374Val |