Linked Data
ClinVar Variation Id:
226441
ClinVar RCV Id:
RCV000216234
RCV001056911
RCV000675100
RCV001004786
RCV001376499
RCV001723791
RCV001833176
dbSNP Id:
rs1057519382
gnomAD v3:
1-215798944-A-C
gnomAD v4:
1-215798944-A-C
ERepo:
CA16044155/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215798944A>C , CM000663.2:g.215798944A>C | GRCh38 |
| NC_000001.10:g.215972286A>C , CM000663.1:g.215972286A>C | GRCh37 |
| NC_000001.9:g.214038909A>C | NCBI36 |
| NG_009497.1:g.629453T>G | |
| NG_009497.2:g.629505T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9921T>G MANE Select | ENSP00000305941.3:p.Cys3307Trp | |
| ENST00000674083.1:c.9921T>G | ENSP00000501296.1:p.Cys3307Trp | |
| ENST00000307340.7:c.9921T>G | ENSP00000305941.3:p.Cys3307Trp | |
| NM_206933.2:c.9921T>G | NP_996816.2:p.Cys3307Trp | |
| NM_206933.3:c.9921T>G | NP_996816.2:p.Cys3307Trp | |
| NM_206933.4:c.9921T>G MANE Select | NP_996816.3:p.Cys3307Trp |