Linked Data
ClinVar Variation Id:
9188
ClinVar RCV Id:
RCV000009766
dbSNP Id:
rs137852653
PubMed:
PMID:7670472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787644A>G , CM000681.2:g.18787644A>G | GRCh38 |
| NC_000019.9:g.18898453A>G , CM000681.1:g.18898453A>G | GRCh37 |
| NC_000019.8:g.18759453A>G | NCBI36 |
| NG_007070.1:g.8662T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.982T>C MANE Select | ENSP00000222271.2:p.Cys328Arg | |
| ENST00000222271.6:c.982T>C | ENSP00000222271.2:p.Cys328Arg | |
| ENST00000425807.1:c.823T>C | ENSP00000403792.1:p.Cys275Arg | |
| ENST00000542601.6:c.883T>C | ENSP00000439156.2:p.Cys295Arg | |
| NM_000095.2:c.982T>C | NP_000086.2:p.Cys328Arg | |
| NM_000095.3:c.982T>C MANE Select | NP_000086.2:p.Cys328Arg |