Linked Data
ClinVar Variation Id:
68803
ClinVar RCV Id:
RCV000059755
dbSNP Id:
rs281875305
gnomAD v4:
9-133437836-G-A
MyVariant Identifiers:
chr9:g.133437836G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133437836G>A , CM000671.2:g.133437836G>A | GRCh38 |
| NC_000009.10:g.135292777G>A | NCBI36 |
| NG_011934.2:g.28498G>A , LRG_544:g.28498G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.1523G>A MANE Select | ENSP00000347927.2:p.Cys508Tyr | |
| ENST00000355699.6:c.1523G>A | ENSP00000347927.2:p.Cys508Tyr | |
| ENST00000356589.6:c.1430G>A | ENSP00000348997.2:p.Cys477Tyr | |
| ENST00000371916.5:c.779G>A | ENSP00000360984.2:p.Cys260Tyr | |
| ENST00000371929.7:c.1523G>A | ENSP00000360997.3:p.Cys508Tyr | |
| ENST00000474918.1:c.*327G>A | ENSP00000435305.1:n.*327G>A | |
| ENST00000485925.5:n.974-1530G>A | ||
| ENST00000495234.5:c.*807G>A | ENSP00000435274.1:n.*807G>A | |
| NM_139025.4:c.1523G>A , LRG_544t1:c.1523G>A | NP_620594.1:p.Cys508Tyr | |
| NM_139026.4:c.1430G>A | NP_620595.1:p.Cys477Tyr | |
| NM_139027.4:c.1523G>A | NP_620596.2:p.Cys508Tyr | |
| NR_024514.2:n.993-1530G>A | ||
| XM_011518174.1:c.1133G>A | XP_011516476.1:p.Cys378Tyr | |
| XM_011518175.1:c.1523G>A | XP_011516477.1:p.Cys508Tyr | |
| XM_011518176.1:c.539G>A | XP_011516478.1:p.Cys180Tyr | |
| XM_011518177.1:c.533G>A | XP_011516479.1:p.Cys178Tyr | |
| XM_011518178.1:c.188G>A | XP_011516480.1:p.Cys63Tyr | |
| XM_011518179.1:c.309G>A | XP_011516481.1:p.Val103= | |
| XM_011518180.1:c.687-7027G>A | XP_011516482.1:n.687-7027G>A | |
| XM_011518176.3:c.539G>A | XP_011516478.1:p.Cys180Tyr | |
| XM_011518178.2:c.188G>A | XP_011516480.1:p.Cys63Tyr | |
| XM_017014232.1:c.1511G>A | XP_016869721.1:p.Cys504Tyr | |
| XM_017014233.1:c.1133G>A | XP_016869722.1:p.Cys378Tyr | |
| XM_017014234.2:c.533G>A | XP_016869723.1:p.Cys178Tyr | |
| XM_017014235.1:c.1523G>A | XP_016869724.1:p.Cys508Tyr | |
| XR_001746171.1:n.2748G>A | ||
| NM_139026.5:c.1430G>A | NP_620595.1:p.Cys477Tyr | |
| NM_139027.5:c.1523G>A | NP_620596.2:p.Cys508Tyr | |
| NM_139025.5:c.1523G>A | NP_620594.1:p.Cys508Tyr | |
| NM_139026.6:c.1430G>A | NP_620595.1:p.Cys477Tyr | |
| NM_139027.6:c.1523G>A MANE Select | NP_620596.2:p.Cys508Tyr | |
| NR_024514.3:n.995-1530G>A |