Linked Data
ClinVar Variation Id:
100503
ClinVar RCV Id:
RCV000086918
dbSNP Id:
rs61751311
ERepo:
CA228847/MONDO:0015628/081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5949139C>G , CM000674.2:g.5949139C>G | GRCh38 |
| NC_000012.11:g.6058305C>G , CM000674.1:g.6058305C>G | GRCh37 |
| NC_000012.10:g.5928566C>G | NCBI36 |
| NG_009072.1:g.180532G>C | |
| NG_009072.2:g.180532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8318G>C MANE Select | ENSP00000261405.5:p.Cys2773Ser | |
| ENST00000261405.9:c.8318G>C | ENSP00000261405.5:p.Cys2773Ser | |
| NM_000552.3:c.8318G>C | NP_000543.2:p.Cys2773Ser | |
| NM_000552.4:c.8318G>C | NP_000543.2:p.Cys2773Ser | |
| NM_000552.5:c.8318G>C MANE Select | NP_000543.3:p.Cys2773Ser |