Linked Data
ClinVar Variation Id:
139590
ClinVar RCV Id:
RCV000128531
dbSNP Id:
rs61752127
gnomAD v4:
8-76983510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983510C>T , CM000670.2:g.76983510C>T | GRCh38 |
| NC_000008.10:g.77895746C>T , CM000670.1:g.77895746C>T | GRCh37 |
| NC_000008.9:g.78058301C>T | NCBI36 |
| NG_008371.1:g.21779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.669G>A MANE Select | ENSP00000349543.4:p.Trp223Ter | |
| ENST00000357039.8:c.669G>A | ENSP00000349543.4:p.Trp223Ter | |
| ENST00000520103.5:c.669G>A | ENSP00000428590.1:p.Trp223Ter | |
| ENST00000522527.5:c.669G>A | ENSP00000428638.1:p.Trp223Ter | |
| NM_000318.2:c.669G>A | NP_000309.1:p.Trp223Ter | |
| NM_001079867.1:c.669G>A | NP_001073336.1:p.Trp223Ter | |
| NM_001172086.1:c.669G>A | NP_001165557.1:p.Trp223Ter | |
| NM_001172087.1:c.669G>A | NP_001165558.1:p.Trp223Ter | |
| NM_000318.3:c.669G>A MANE Select | NP_000309.2:p.Trp223Ter | |
| NM_001079867.2:c.669G>A | NP_001073336.2:p.Trp223Ter | |
| NM_001172086.2:c.669G>A | NP_001165557.2:p.Trp223Ter | |
| NM_001172087.2:c.669G>A | NP_001165558.2:p.Trp223Ter |