Linked Data
ClinVar Variation Id:
7599
dbSNP Id:
rs121909136
ExAC:
1:16382003 G / A
gnomAD v2:
1-16382003-G-A
gnomAD v3:
1-16055508-G-A
gnomAD v4:
1-16055508-G-A
PubMed:
PMID:15531551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055508G>A , CM000663.2:g.16055508G>A | GRCh38 |
| NC_000001.10:g.16382003G>A , CM000663.1:g.16382003G>A | GRCh37 |
| NC_000001.9:g.16254590G>A | NCBI36 |
| NG_013079.1:g.16757G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.1830G>A | ENSP00000507062.1:p.Trp610Ter | |
| ENST00000682793.1:c.1830G>A | ENSP00000506910.1:p.Trp610Ter | |
| ENST00000682838.1:c.*1572G>A | ENSP00000507652.1:n.*1572G>A | |
| ENST00000683578.1:c.1830G>A | ENSP00000507430.1:p.Trp610Ter | |
| ENST00000683606.1:n.1436G>A | ||
| ENST00000683661.1:n.3365G>A | ||
| ENST00000684324.1:c.1830G>A | ENSP00000507937.1:p.Trp610Ter | |
| ENST00000684545.1:c.1830G>A | ENSP00000506733.1:p.Trp610Ter | |
| ENST00000684624.1:n.1207G>A | ||
| ENST00000684714.1:c.*50G>A | ENSP00000506861.1:n.*50G>A | |
| ENST00000684731.1:n.1157G>A | ||
| ENST00000375679.9:c.1830G>A MANE Select | ENSP00000364831.5:p.Trp610Ter | |
| ENST00000375667.7:c.1323G>A | ENSP00000364819.3:p.Trp441Ter | |
| ENST00000375679.8:c.1830G>A | ENSP00000364831.4:p.Trp610Ter | |
| ENST00000431772.1:c.297G>A | ENSP00000389344.1:p.Trp99Ter | |
| ENST00000619181.4:c.1294-1679G>A | ENSP00000483866.1:n.1294-1679G>A | |
| NM_000085.4:c.1830G>A | NP_000076.2:p.Trp610Ter | |
| NM_001165945.2:c.1323G>A | NP_001159417.2:p.Trp441Ter | |
| XM_011540619.1:c.1671G>A | XP_011538921.1:p.Trp557Ter | |
| XM_011540621.1:c.1179G>A | XP_011538923.1:p.Trp393Ter | |
| NM_000085.5:c.1830G>A MANE Select | NP_000076.2:p.Trp610Ter |