Linked Data
ClinVar Variation Id:
161758
ClinVar RCV Id:
RCV000149294
dbSNP Id:
rs193920867
COSMIC:
COSM1179905
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162293622T>G , CM000664.2:g.162293622T>G | GRCh38 |
| NC_000002.11:g.163150132T>G , CM000664.1:g.163150132T>G | GRCh37 |
| NC_000002.10:g.162858378T>G | NCBI36 |
| NG_011495.1:g.29908A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*413A>C | ENSP00000513228.1:n.*413A>C | |
| ENST00000648433.1:c.816A>C | ENSP00000496816.1:p.Glu272Asp | |
| ENST00000649554.1:n.426A>C | ||
| ENST00000649979.2:c.816A>C MANE Select | ENSP00000497271.1:p.Glu272Asp | |
| ENST00000679938.1:c.504A>C | ENSP00000505518.1:p.Glu168Asp | |
| ENST00000263642.2:c.816A>C | ENSP00000263642.2:p.Glu272Asp | |
| ENST00000464129.1:n.509A>C | ||
| NM_022168.3:c.816A>C | NP_071451.2:p.Glu272Asp | |
| XM_011511628.1:c.99A>C | XP_011509930.1:p.Glu33Asp | |
| XM_011511629.1:c.816A>C | XP_011509931.1:p.Glu272Asp | |
| NM_022168.4:c.816A>C MANE Select | NP_071451.2:p.Glu272Asp |