Linked Data
ClinVar Variation Id:
1537
dbSNP Id:
rs118204066
gnomAD v4:
8-19960988-G-A
PubMed:
PMID:1752947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960988G>A , CM000670.2:g.19960988G>A | GRCh38 |
| NC_000008.10:g.19818499G>A , CM000670.1:g.19818499G>A | GRCh37 |
| NC_000008.9:g.19862779G>A | NCBI36 |
| NG_008855.1:g.26918G>A | |
| NG_008855.2:g.64272G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1227G>A MANE Select | ENSP00000497642.1:p.Trp409Ter | |
| ENST00000650478.1:c.167G>A | ENSP00000497560.1:n.167G>A | |
| ENST00000311322.8:c.1227G>A | ENSP00000309757.6:p.Trp409Ter | |
| NM_000237.2:c.1227G>A | NP_000228.1:p.Trp409Ter | |
| NM_000237.3:c.1227G>A MANE Select | NP_000228.1:p.Trp409Ter |