Linked Data
ClinVar Variation Id:
265438
dbSNP Id:
rs781230182
ExAC:
1:24192112 A / T
gnomAD v2:
1-24192112-A-T
gnomAD v4:
1-23865622-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865622A>T , CM000663.2:g.23865622A>T | GRCh38 |
| NC_000001.10:g.24192112A>T , CM000663.1:g.24192112A>T | GRCh37 |
| NC_000001.9:g.24064699A>T | NCBI36 |
| NG_013346.1:g.7748T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.393T>A MANE Select | ENSP00000363603.3:p.Tyr131Ter | |
| ENST00000374479.3:c.393T>A | ENSP00000363603.3:p.Tyr131Ter | |
| NM_000147.4:c.393T>A | NP_000138.2:p.Tyr131Ter | |
| XM_005245821.1:c.18T>A | XP_005245878.1:p.Tyr6Ter | |
| XM_011541167.1:c.-241T>A | XP_011539469.1:n.-241T>A | |
| XM_005245821.3:c.18T>A | XP_005245878.1:p.Tyr6Ter | |
| XM_011541167.3:c.-241T>A | XP_011539469.1:n.-241T>A | |
| XM_017000905.2:c.90T>A | XP_016856394.1:p.Tyr30Ter | |
| NM_000147.5:c.393T>A MANE Select | NP_000138.2:p.Tyr131Ter | |
| NR_174379.1:n.571T>A | ||
| NR_174380.1:n.620T>A | ||
| NR_174381.1:n.459T>A | ||
| NR_174382.1:n.856T>A |