Linked Data
ClinVar Variation Id:
226449
ClinVar RCV Id:
RCV000258506
dbSNP Id:
rs886037774
PubMed:
PMID:28548960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955993T>C , CM000670.2:g.19955993T>C | GRCh38 |
| NC_000008.10:g.19813504T>C , CM000670.1:g.19813504T>C | GRCh37 |
| NC_000008.9:g.19857784T>C | NCBI36 |
| NG_008855.1:g.21923T>C | |
| NG_008855.2:g.59277T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.928T>C MANE Select | ENSP00000497642.1:p.Cys310Arg | |
| ENST00000311322.8:c.928T>C | ENSP00000309757.6:p.Cys310Arg | |
| NM_000237.2:c.928T>C | NP_000228.1:p.Cys310Arg | |
| NM_000237.3:c.928T>C MANE Select | NP_000228.1:p.Cys310Arg |