Linked Data
ClinVar Variation Id:
101515
ClinVar RCV Id:
RCV000087748
dbSNP Id:
rs200166664
gnomAD v4:
1-209788625-C-T
COSMIC:
COSM4998386
PubMed:
PMID:20184620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209788625C>T , CM000663.2:g.209788625C>T | GRCh38 |
| NC_000001.10:g.209961970C>T , CM000663.1:g.209961970C>T | GRCh37 |
| NC_000001.9:g.208028593C>T | NCBI36 |
| NG_007081.2:g.22510G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.1199G>A | ENSP00000512426.1:p.Arg400Gln | |
| ENST00000696134.1:c.*626G>A | ENSP00000512427.1:n.*626G>A | |
| ENST00000367021.8:c.1199G>A MANE Select | ENSP00000355988.3:p.Arg400Gln | |
| ENST00000643798.1:c.*709G>A | ENSP00000496669.1:n.*709G>A | |
| ENST00000367021.7:c.1199G>A | ENSP00000355988.3:p.Arg400Gln | |
| ENST00000542854.5:c.914G>A | ENSP00000440532.1:p.Arg305Gln | |
| NM_001206696.1:c.914G>A | NP_001193625.1:p.Arg305Gln | |
| NM_006147.3:c.1199G>A | NP_006138.1:p.Arg400Gln | |
| NM_006147.4:c.1199G>A MANE Select | NP_006138.1:p.Arg400Gln | |
| NM_001206696.2:c.914G>A | NP_001193625.1:p.Arg305Gln |