Linked Data
ClinVar Variation Id:
1076377
ClinVar RCV Id:
RCV001390268
dbSNP Id:
rs1643479461
gnomAD v3:
1-42930685-G-A
gnomAD v4:
1-42930685-G-A
PubMed:
PMID:23020937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930685G>A , CM000663.2:g.42930685G>A | GRCh38 |
| NC_000001.10:g.43396356G>A , CM000663.1:g.43396356G>A | GRCh37 |
| NC_000001.9:g.43168943G>A | NCBI36 |
| NG_008232.1:g.33492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.457C>T MANE Select | ENSP00000416293.2:p.Arg153Cys | |
| ENST00000674765.1:c.457C>T | ENSP00000501811.1:p.Arg153Cys | |
| ENST00000675112.1:n.480C>T | ||
| ENST00000676254.1:n.906C>T | ||
| ENST00000426263.7:c.457C>T | ENSP00000416293.2:p.Arg153Cys | |
| ENST00000439722.2:c.336C>T | ENSP00000395521.2:n.336C>T | |
| ENST00000475162.3:c.356C>T | ||
| ENST00000625233.2:n.665C>T | ||
| ENST00000630287.2:c.457C>T | ENSP00000486694.1:p.Arg153Cys | |
| NM_006516.2:c.457C>T | NP_006507.2:p.Arg153Cys | |
| NM_006516.3:c.457C>T | NP_006507.2:p.Arg153Cys | |
| NM_006516.4:c.457C>T MANE Select | NP_006507.2:p.Arg153Cys |