Linked Data
ClinVar Variation Id:
2795132
ClinVar RCV Id:
RCV003675252
dbSNP Id:
rs748707708
gnomAD v2:
1-43830093-C-T
gnomAD v3:
1-43364422-C-T
gnomAD v4:
1-43364422-C-T
COSMIC:
COSM4680818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43364422C>T , CM000663.2:g.43364422C>T | GRCh38 |
| NC_000001.10:g.43830093C>T , CM000663.1:g.43830093C>T | GRCh37 |
| NC_000001.9:g.43602680C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372458.8:c.520G>A MANE Select | ENSP00000361536.3:p.Val174Met | |
| ENST00000372458.7:c.520G>A | ENSP00000361536.3:p.Val174Met | |
| ENST00000413844.3:c.439G>A | ENSP00000416024.2:p.Val147Met | |
| ENST00000464204.5:n.554G>A | ||
| ENST00000468865.6:n.289G>A | ||
| ENST00000470769.5:n.854G>A | ||
| ENST00000470968.6:n.501-285G>A | ||
| ENST00000478481.5:n.489G>A | ||
| ENST00000482302.5:n.763G>A | ||
| ENST00000487209.5:n.428G>A | ||
| ENST00000497050.5:n.787G>A | ||
| ENST00000497569.5:n.588G>A | ||
| ENST00000621943.4:c.520G>A | ENSP00000477602.1:p.Val174Met | |
| NM_001256399.1:c.520G>A | NP_001243328.1:p.Val174Met | |
| NM_001256401.1:c.439G>A | NP_001243330.1:p.Val147Met | |
| NM_001256402.1:c.277G>A | NP_001243331.1:p.Val93Met | |
| NM_022821.3:c.520G>A | NP_073732.1:p.Val174Met | |
| NR_046117.1:n.621G>A | ||
| NM_022821.4:c.520G>A MANE Select | NP_073732.1:p.Val174Met | |
| NM_001256402.2:c.277G>A | NP_001243331.1:p.Val93Met | |
| NR_046117.2:n.558G>A | ||
| NM_001256399.2:c.520G>A | NP_001243328.1:p.Val174Met | |
| NM_001256401.2:c.439G>A | NP_001243330.1:p.Val147Met |