Linked Data
dbSNP Id:
rs1554789224
gnomAD v4:
9-133436913-G-A
MyVariant Identifiers:
chr9:g.133436913G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436913G>A , CM000671.2:g.133436913G>A | GRCh38 |
| NC_000009.10:g.135291854G>A | NCBI36 |
| NG_011934.2:g.27575G>A , LRG_544:g.27575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1393G>A MANE Select | ENSP00000347927.2:p.Ala465Thr | |
| ENST00000355699.6:c.1393G>A | ENSP00000347927.2:p.Ala465Thr | |
| ENST00000356589.6:c.1300G>A | ENSP00000348997.2:p.Ala434Thr | |
| ENST00000371916.5:c.649G>A | ENSP00000360984.2:p.Ala217Thr | |
| ENST00000371929.7:c.1393G>A | ENSP00000360997.3:p.Ala465Thr | |
| ENST00000474918.1:c.*197G>A | ENSP00000435305.1:n.*197G>A | |
| ENST00000485925.5:n.974-2453G>A | ||
| ENST00000495234.5:c.*677G>A | ENSP00000435274.1:n.*677G>A | |
| NM_139025.4:c.1393G>A , LRG_544t1:c.1393G>A | NP_620594.1:p.Ala465Thr | |
| NM_139026.4:c.1300G>A | NP_620595.1:p.Ala434Thr | |
| NM_139027.4:c.1393G>A | NP_620596.2:p.Ala465Thr | |
| NR_024514.2:n.993-2453G>A | ||
| XM_011518174.1:c.1003G>A | XP_011516476.1:p.Ala335Thr | |
| XM_011518175.1:c.1393G>A | XP_011516477.1:p.Ala465Thr | |
| XM_011518176.1:c.409G>A | XP_011516478.1:p.Ala137Thr | |
| XM_011518177.1:c.403G>A | XP_011516479.1:p.Ala135Thr | |
| XM_011518178.1:c.58G>A | XP_011516480.1:p.Ala20Thr | |
| XM_011518179.1:c.179G>A | XP_011516481.1:p.Arg60His | |
| XM_011518180.1:c.687-7950G>A | XP_011516482.1:n.687-7950G>A | |
| XM_011518176.3:c.409G>A | XP_011516478.1:p.Ala137Thr | |
| XM_011518178.2:c.58G>A | XP_011516480.1:p.Ala20Thr | |
| XM_017014232.1:c.1381G>A | XP_016869721.1:p.Ala461Thr | |
| XM_017014233.1:c.1003G>A | XP_016869722.1:p.Ala335Thr | |
| XM_017014234.2:c.403G>A | XP_016869723.1:p.Ala135Thr | |
| XM_017014235.1:c.1393G>A | XP_016869724.1:p.Ala465Thr | |
| XR_001746171.1:n.2618G>A | ||
| NM_139026.5:c.1300G>A | NP_620595.1:p.Ala434Thr | |
| NM_139027.5:c.1393G>A | NP_620596.2:p.Ala465Thr | |
| NM_139025.5:c.1393G>A | NP_620594.1:p.Ala465Thr | |
| NM_139026.6:c.1300G>A | NP_620595.1:p.Ala434Thr | |
| NM_139027.6:c.1393G>A MANE Select | NP_620596.2:p.Ala465Thr | |
| NR_024514.3:n.995-2453G>A |