Linked Data
ClinVar Variation Id:
17794
ClinVar RCV Id:
RCV000019372
dbSNP Id:
rs121912734
PubMed:
PMID:10441325
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110339638T>C , CM000674.2:g.110339638T>C | GRCh38 |
| NC_000012.11:g.110777443T>C , CM000674.1:g.110777443T>C | GRCh37 |
| NC_000012.10:g.109261826T>C | NCBI36 |
| NG_007097.2:g.63012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539276.7:c.1678T>C MANE Select | ENSP00000440045.2:p.Cys560Arg | |
| ENST00000308664.10:c.1678T>C | ENSP00000311186.6:p.Cys560Arg | |
| ENST00000377685.9:c.*1518T>C | ENSP00000366913.4:n.*1518T>C | |
| ENST00000539276.6:c.1678T>C | ENSP00000440045.2:p.Cys560Arg | |
| ENST00000548169.2:c.1349T>C | ||
| NM_001681.3:c.1678T>C | NP_001672.1:p.Cys560Arg | |
| NM_170665.3:c.1678T>C | NP_733765.1:p.Cys560Arg | |
| XM_005253888.1:c.1678T>C | XP_005253945.1:p.Cys560Arg | |
| XM_011538402.1:c.1678T>C | XP_011536704.1:p.Cys560Arg | |
| XM_011538403.1:c.1678T>C | XP_011536705.1:p.Cys560Arg | |
| XR_243009.1:n.1684T>C | ||
| XM_005253888.3:c.1678T>C | XP_005253945.1:p.Cys560Arg | |
| XM_011538402.3:c.1678T>C | XP_011536704.1:p.Cys560Arg | |
| XR_002957329.1:n.1684T>C | ||
| XR_243009.3:n.1684T>C | ||
| NM_170665.4:c.1678T>C MANE Select | NP_733765.1:p.Cys560Arg | |
| NM_001681.4:c.1678T>C | NP_001672.1:p.Cys560Arg |