Linked Data
ClinVar Variation Id:
412470
ClinVar RCV Id:
RCV000458792
dbSNP Id:
rs1060503759
gnomAD v2:
1-17350508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024013C>T , CM000663.2:g.17024013C>T | GRCh38 |
| NC_000001.10:g.17350508C>T , CM000663.1:g.17350508C>T | GRCh37 |
| NC_000001.9:g.17223095C>T | NCBI36 |
| NG_012340.1:g.35158G>A , LRG_316:g.35158G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.431G>A | ENSP00000481376.2:p.Trp144Ter | |
| ENST00000491274.6:c.560G>A | ENSP00000480482.2:p.Trp187Ter | |
| ENST00000375499.8:c.602G>A MANE Select | ENSP00000364649.3:p.Trp201Ter | |
| ENST00000375499.7:c.602G>A | ENSP00000364649.3:p.Trp201Ter | |
| ENST00000485515.5:n.536G>A | ||
| ENST00000491274.5:c.560G>A | ENSP00000480482.1:p.Trp187Ter | |
| NM_003000.2:c.602G>A , LRG_316t1:c.602G>A | NP_002991.2:p.Trp201Ter | |
| NM_003000.3:c.602G>A MANE Select | NP_002991.2:p.Trp201Ter |