Linked Data
ClinVar Variation Id:
422103
ClinVar RCV Id:
RCV000480527
RCV000818851
RCV000991213
RCV001374919
RCV001281382
RCV002271511
RCV003409664
dbSNP Id:
rs1064795559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30946373G>A , CM000684.2:g.30946373G>A | GRCh38 |
| NC_000022.10:g.31342360G>A , CM000684.1:g.31342360G>A | GRCh37 |
| NC_000022.9:g.29672360G>A | NCBI36 |
| NG_046752.1:g.27125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.394C>T MANE Select | ENSP00000380763.2:p.Arg132Cys | |
| ENST00000675601.1:n.236C>T | ||
| ENST00000215862.8:c.208C>T | ENSP00000215862.4:p.Arg70Cys | |
| ENST00000397641.7:c.394C>T | ENSP00000380763.2:p.Arg132Cys | |
| ENST00000476152.2:n.516C>T | ||
| NM_001303256.1:c.394C>T | NP_001290185.1:p.Arg132Cys | |
| NM_001303257.1:c.394C>T | NP_001290186.1:p.Arg132Cys | |
| NM_014941.2:c.208C>T | NP_055756.1:p.Arg70Cys | |
| XM_011530003.1:c.418C>T | XP_011528305.1:p.Arg140Cys | |
| XM_011530004.1:c.409C>T | XP_011528306.1:p.Arg137Cys | |
| XM_011530005.1:c.418C>T | XP_011528307.1:p.Arg140Cys | |
| XM_011530006.1:c.259C>T | XP_011528308.1:p.Arg87Cys | |
| NM_001303256.2:c.394C>T | NP_001290185.1:p.Arg132Cys | |
| NM_001303257.2:c.394C>T | NP_001290186.1:p.Arg132Cys | |
| NM_014941.3:c.208C>T | NP_055756.1:p.Arg70Cys | |
| XM_011530004.2:c.409C>T | XP_011528306.1:p.Arg137Cys | |
| XM_017028667.2:c.409C>T | XP_016884156.1:p.Arg137Cys | |
| NM_001303256.3:c.394C>T MANE Select | NP_001290185.1:p.Arg132Cys |