Linked Data
ClinVar Variation Id:
501440
dbSNP Id:
rs1274808359
gnomAD v2:
15-42693865-C-T
gnomAD v3:
15-42401667-C-T
gnomAD v4:
15-42401667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42401667C>T , CM000677.2:g.42401667C>T | GRCh38 |
| NC_000015.9:g.42693865C>T , CM000677.1:g.42693865C>T | GRCh37 |
| NC_000015.8:g.40481157C>T | NCBI36 |
| NG_008660.1:g.58565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1237C>T | ENSP00000183936.4:p.Arg413Cys | |
| ENST00000357568.8:c.1381C>T | ENSP00000350181.3:p.Arg461Cys | |
| ENST00000397163.8:c.1381C>T MANE Select | ENSP00000380349.3:p.Arg461Cys | |
| ENST00000466369.5:n.1890C>T | ||
| ENST00000483208.5:n.1612C>T | ||
| ENST00000495723.1:n.1612C>T | ||
| ENST00000549793.5:n.1612C>T | ||
| ENST00000638141.2:n.1252C>T | ||
| ENST00000673705.1:c.309+2015C>T | ENSP00000501021.1:n.309+2015C>T | |
| ENST00000318023.11:c.1237C>T | ENSP00000326281.8:p.Arg413Cys | |
| ENST00000349748.7:c.1237C>T | ENSP00000183936.4:p.Arg413Cys | |
| ENST00000357568.7:c.1381C>T | ENSP00000350181.3:p.Arg461Cys | |
| ENST00000397163.7:c.1381C>T | ENSP00000380349.3:p.Arg461Cys | |
| NM_000070.2:c.1381C>T | NP_000061.1:p.Arg461Cys | |
| NM_024344.1:c.1381C>T | NP_077320.1:p.Arg461Cys | |
| NM_173087.1:c.1237C>T | NP_775110.1:p.Arg413Cys | |
| NM_000070.3:c.1381C>T MANE Select | NP_000061.1:p.Arg461Cys | |
| NM_024344.2:c.1381C>T | NP_077320.1:p.Arg461Cys | |
| NM_173087.2:c.1237C>T | NP_775110.1:p.Arg413Cys |