Linked Data
ClinVar Variation Id:
39503
ClinVar RCV Id:
RCV000032699
dbSNP Id:
rs397514515
PubMed:
PMID:23176821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107945263T>C , CM000666.2:g.107945263T>C | GRCh38 |
| NC_000004.11:g.108866419T>C , CM000666.1:g.108866419T>C | GRCh37 |
| NC_000004.10:g.109085868T>C | NCBI36 |
| NG_007961.1:g.18703T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.784T>C MANE Select | ENSP00000333212.6:p.Cys262Arg | |
| ENST00000332884.10:c.784T>C | ENSP00000333212.6:p.Cys262Arg | |
| ENST00000508453.1:c.157T>C | ENSP00000423667.1:p.Cys53Arg | |
| NM_183075.2:c.784T>C | NP_898898.1:p.Cys262Arg | |
| XM_005262717.2:c.838T>C | XP_005262774.1:p.Cys280Arg | |
| XM_005262720.2:c.491-2113T>C | XP_005262777.1:n.491-2113T>C | |
| XR_001741783.1:n.156-34714A>G | ||
| XR_001741784.1:n.530+33457A>G | ||
| NM_183075.3:c.784T>C MANE Select | NP_898898.1:p.Cys262Arg |