Linked Data
ClinVar Variation Id:
1795424
ClinVar RCV Id:
RCV002439234
dbSNP Id:
rs756598856
gnomAD v2:
8-19809303-G-C
gnomAD v4:
8-19951792-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951792G>C , CM000670.2:g.19951792G>C | GRCh38 |
| NC_000008.10:g.19809303G>C , CM000670.1:g.19809303G>C | GRCh37 |
| NC_000008.9:g.19853583G>C | NCBI36 |
| NG_008855.1:g.17722G>C | |
| NG_008855.2:g.55076G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.273G>C MANE Select | ENSP00000497642.1:p.Trp91Cys | |
| ENST00000311322.8:c.273G>C | ENSP00000309757.6:p.Trp91Cys | |
| ENST00000520959.5:c.45G>C | ENSP00000428496.1:p.Trp15Cys | |
| ENST00000521994.1:n.530G>C | ||
| ENST00000522701.5:c.273G>C | ENSP00000428557.1:p.Trp91Cys | |
| ENST00000524029.5:c.273G>C | ENSP00000428237.1:p.Trp91Cys | |
| NM_000237.2:c.273G>C | NP_000228.1:p.Trp91Cys | |
| NM_000237.3:c.273G>C MANE Select | NP_000228.1:p.Trp91Cys |