Linked Data
ClinVar Variation Id:
93313
dbSNP Id:
rs398123475
gnomAD v3:
11-6393652-T-G
gnomAD v4:
11-6393652-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393652T>G , CM000673.2:g.6393652T>G | GRCh38 |
| NC_000011.9:g.6414882T>G , CM000673.1:g.6414882T>G | GRCh37 |
| NC_000011.8:g.6371458T>G | NCBI36 |
| NG_011780.1:g.8228T>G | |
| NG_029615.1:g.30763A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.1299T>G MANE Select | ENSP00000340409.4:p.Cys433Trp | |
| ENST00000342245.8:c.1299T>G | ENSP00000340409.4:p.Cys433Trp | |
| ENST00000526280.1:c.356T>G | ||
| ENST00000527275.5:c.1296T>G | ENSP00000435350.1:p.Cys432Trp | |
| ENST00000531303.5:c.*130T>G | ENSP00000432625.1:n.*130T>G | |
| ENST00000531336.1:n.131T>G | ||
| ENST00000532367.1:n.135T>G | ||
| ENST00000533123.5:c.*26T>G | ENSP00000435950.1:n.*26T>G | |
| ENST00000534405.5:c.*130T>G | ENSP00000434353.1:n.*130T>G | |
| NM_000543.4:c.1299T>G | NP_000534.3:p.Cys433Trp | |
| NM_001007593.2:c.1296T>G | NP_001007594.2:p.Cys432Trp | |
| XM_005253075.3:c.1299T>G | XP_005253132.1:p.Cys433Trp | |
| XM_011520303.1:c.1167T>G | XP_011518605.1:p.Cys389Trp | |
| XM_011520304.1:c.1167T>G | XP_011518606.1:p.Cys389Trp | |
| XR_930886.1:n.1637T>G | ||
| NM_001318087.1:c.1299T>G | NP_001305016.1:p.Cys433Trp | |
| NM_001318088.1:c.378T>G | NP_001305017.1:p.Cys126Trp | |
| NM_001365135.1:c.1167T>G | NP_001352064.1:p.Cys389Trp | |
| NR_027400.2:n.1312T>G | ||
| NR_134502.1:n.831T>G | ||
| XM_011520304.2:c.1167T>G | XP_011518606.1:p.Cys389Trp | |
| XR_001747940.2:n.1464T>G | ||
| XR_002957158.1:n.1464T>G | ||
| NM_000543.5:c.1299T>G MANE Select | NP_000534.3:p.Cys433Trp | |
| NM_001007593.3:c.1296T>G | NP_001007594.2:p.Cys432Trp | |
| NM_001318087.2:c.1299T>G | NP_001305016.1:p.Cys433Trp | |
| NM_001318088.2:c.378T>G | NP_001305017.1:p.Cys126Trp | |
| NM_001365135.2:c.1167T>G | NP_001352064.1:p.Cys389Trp | |
| NR_027400.3:n.1252T>G | ||
| NR_134502.2:n.771T>G |