Linked Data
ClinVar Variation Id:
3415
dbSNP Id:
rs121434227
gnomAD v4:
1-209796476-C-T
COSMIC:
COSM5511640
PubMed:
PMID:12219090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209796476C>T , CM000663.2:g.209796476C>T | GRCh38 |
| NC_000001.10:g.209969821C>T , CM000663.1:g.209969821C>T | GRCh37 |
| NC_000001.9:g.208036444C>T | NCBI36 |
| NG_007081.2:g.14659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.251G>A | ENSP00000512426.1:p.Arg84His | |
| ENST00000696134.1:c.251G>A | ENSP00000512427.1:p.Arg84His | |
| ENST00000367021.8:c.251G>A MANE Select | ENSP00000355988.3:p.Arg84His | |
| ENST00000643798.1:c.251G>A | ENSP00000496669.1:p.Arg84His | |
| ENST00000367021.7:c.251G>A | ENSP00000355988.3:p.Arg84His | |
| ENST00000456314.1:c.251G>A | ENSP00000403855.1:p.Arg84His | |
| ENST00000542854.5:c.-35G>A | ENSP00000440532.1:n.-35G>A | |
| NM_001206696.1:c.-35G>A | NP_001193625.1:n.-35G>A | |
| NM_006147.3:c.251G>A | NP_006138.1:p.Arg84His | |
| NM_006147.4:c.251G>A MANE Select | NP_006138.1:p.Arg84His | |
| NM_001206696.2:c.-35G>A | NP_001193625.1:n.-35G>A |