Linked Data
ClinVar Variation Id:
294805
ClinVar RCV Id:
RCV000387306
dbSNP Id:
rs886045808
gnomAD v3:
1-201313237-G-C
gnomAD v4:
1-201313237-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201313237G>C , CM000663.2:g.201313237G>C | GRCh38 |
| NC_000001.10:g.201282365G>C , CM000663.1:g.201282365G>C | GRCh37 |
| NC_000001.9:g.199548988G>C | NCBI36 |
| NG_023337.1:g.34786G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.378G>C MANE Select | ENSP00000356293.4:p.Trp126Cys | |
| ENST00000263946.7:c.378G>C | ENSP00000263946.3:p.Trp126Cys | |
| ENST00000352845.3:c.378G>C | ENSP00000295597.3:p.Trp126Cys | |
| ENST00000367324.7:c.378G>C | ENSP00000356293.3:p.Trp126Cys | |
| ENST00000622031.4:c.378G>C | ENSP00000482213.1:p.Trp126Cys | |
| NM_000299.3:c.378G>C | NP_000290.2:p.Trp126Cys | |
| NM_001005337.2:c.378G>C | NP_001005337.1:p.Trp126Cys | |
| NM_001005337.3:c.378G>C MANE Select | NP_001005337.1:p.Trp126Cys | |
| NM_000299.4:c.378G>C | NP_000290.2:p.Trp126Cys |