UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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 |