Linked Data
ClinVar Variation Id:
17619
ClinVar RCV Id:
RCV000019186
dbSNP Id:
rs267606703
gnomAD v4:
15-42394306-G-C
PubMed:
PMID:9771675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42394306G>C , CM000677.2:g.42394306G>C | GRCh38 |
| NC_000015.9:g.42686504G>C , CM000677.1:g.42686504G>C | GRCh37 |
| NC_000015.8:g.40473796G>C | NCBI36 |
| NG_008660.1:g.51204G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.936G>C | ENSP00000183936.4:p.Trp312Cys | |
| ENST00000357568.8:c.1080G>C | ENSP00000350181.3:p.Trp360Cys | |
| ENST00000397163.8:c.1080G>C MANE Select | ENSP00000380349.3:p.Trp360Cys | |
| ENST00000466369.5:n.1589G>C | ||
| ENST00000483208.5:n.1311G>C | ||
| ENST00000495723.1:n.1311G>C | ||
| ENST00000549793.5:n.1311G>C | ||
| ENST00000638141.2:n.951G>C | ||
| ENST00000673658.1:n.64G>C | ||
| ENST00000673705.1:c.71-2494G>C | ENSP00000501021.1:n.71-2494G>C | |
| ENST00000318023.11:c.936G>C | ENSP00000326281.8:p.Trp312Cys | |
| ENST00000349748.7:c.936G>C | ENSP00000183936.4:p.Trp312Cys | |
| ENST00000357568.7:c.1080G>C | ENSP00000350181.3:p.Trp360Cys | |
| ENST00000397163.7:c.1080G>C | ENSP00000380349.3:p.Trp360Cys | |
| NM_000070.2:c.1080G>C | NP_000061.1:p.Trp360Cys | |
| NM_024344.1:c.1080G>C | NP_077320.1:p.Trp360Cys | |
| NM_173087.1:c.936G>C | NP_775110.1:p.Trp312Cys | |
| NM_000070.3:c.1080G>C MANE Select | NP_000061.1:p.Trp360Cys | |
| NM_024344.2:c.1080G>C | NP_077320.1:p.Trp360Cys | |
| NM_173087.2:c.936G>C | NP_775110.1:p.Trp312Cys |