Linked Data
ClinVar Variation Id:
424651
dbSNP Id:
rs1555177629
gnomAD v4:
12-57567514-C-T
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567514C>T , CM000674.2:g.57567514C>T | GRCh38 |
| NC_000012.11:g.57961297C>T , CM000674.1:g.57961297C>T | GRCh37 |
| NC_000012.10:g.56247564C>T | NCBI36 |
| NG_008155.1:g.22451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.610C>T MANE Select | ENSP00000408979.2:p.Arg204Trp | |
| ENST00000674619.1:c.610C>T | ENSP00000502270.1:p.Arg204Trp | |
| ENST00000676457.1:c.505C>T | ENSP00000501588.1:p.Arg169Trp | |
| ENST00000286452.5:c.343C>T | ENSP00000286452.5:p.Arg115Trp | |
| ENST00000455537.6:c.610C>T | ENSP00000408979.2:p.Arg204Trp | |
| NM_004984.2:c.610C>T | NP_004975.2:p.Arg204Trp | |
| NM_001354705.1:c.343C>T | NP_001341634.1:p.Arg115Trp | |
| NM_004984.3:c.610C>T | NP_004975.2:p.Arg204Trp | |
| XR_002957324.1:n.843C>T | ||
| NM_004984.4:c.610C>T MANE Select | NP_004975.2:p.Arg204Trp | |
| NM_001354705.2:c.343C>T | NP_001341634.1:p.Arg115Trp |