Linked Data
ClinVar Variation Id:
2382
ClinVar RCV Id:
RCV002512677
dbSNP Id:
rs137852876
gnomAD v4:
19-41422309-C-G
PubMed:
PMID:14742428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422309C>G , CM000681.2:g.41422309C>G | GRCh38 |
| NC_000019.9:g.41928214C>G , CM000681.1:g.41928214C>G | GRCh37 |
| NC_000019.8:g.46620054C>G | NCBI36 |
| NG_013004.1:g.29521C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.792C>G MANE Select | ENSP00000269980.2:p.Cys264Trp | |
| ENST00000269980.6:c.792C>G | ENSP00000269980.2:p.Cys264Trp | |
| ENST00000457836.6:c.726C>G | ENSP00000416000.2:p.Cys242Trp | |
| ENST00000535632.5:n.421C>G | ||
| ENST00000540732.3:c.894C>G | ENSP00000443246.1:p.Cys298Trp | |
| ENST00000542943.5:c.705C>G | ENSP00000440345.1:p.Cys235Trp | |
| ENST00000545787.1:n.420C>G | ||
| ENST00000595085.5:c.792C>G | ENSP00000471150.2:p.Cys264Trp | |
| NM_000709.3:c.792C>G | NP_000700.1:p.Cys264Trp | |
| NM_001164783.1:c.792C>G | NP_001158255.1:p.Cys264Trp | |
| NM_000709.4:c.792C>G MANE Select | NP_000700.1:p.Cys264Trp | |
| NM_001164783.2:c.792C>G | NP_001158255.1:p.Cys264Trp |