Linked Data
ClinVar Variation Id:
191180
dbSNP Id:
rs786205564
gnomAD v2:
3-100962901-C-T
COSMIC:
COSM1693096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244057C>T , CM000665.2:g.101244057C>T | GRCh38 |
| NC_000003.11:g.100962901C>T , CM000665.1:g.100962901C>T | GRCh37 |
| NC_000003.10:g.102445591C>T | NCBI36 |
| NG_028284.1:g.81519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.2274G>A MANE Select | ENSP00000193391.6:p.Trp758Ter | |
| ENST00000193391.7:c.2274G>A | ENSP00000193391.6:p.Trp758Ter | |
| NM_016247.3:c.2274G>A | NP_057331.2:p.Trp758Ter | |
| XM_011512871.1:c.1980G>A | XP_011511173.1:p.Trp660Ter | |
| XM_011512872.1:c.1863G>A | XP_011511174.1:p.Trp621Ter | |
| NM_016247.4:c.2274G>A MANE Select | NP_057331.2:p.Trp758Ter |