Linked Data
dbSNP Id:
rs782279962
gnomAD v4:
9-133436907-G-A
MyVariant Identifiers:
chr9:g.133436907G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133436907G>A , CM000671.2:g.133436907G>A | GRCh38 |
| NC_000009.10:g.135291848G>A | NCBI36 |
| NG_011934.2:g.27569G>A , LRG_544:g.27569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.1387G>A MANE Select | ENSP00000347927.2:p.Gly463Ser | |
| ENST00000355699.6:c.1387G>A | ENSP00000347927.2:p.Gly463Ser | |
| ENST00000356589.6:c.1294G>A | ENSP00000348997.2:p.Gly432Ser | |
| ENST00000371916.5:c.643G>A | ENSP00000360984.2:p.Gly215Ser | |
| ENST00000371929.7:c.1387G>A | ENSP00000360997.3:p.Gly463Ser | |
| ENST00000474918.1:c.*191G>A | ENSP00000435305.1:n.*191G>A | |
| ENST00000485925.5:n.974-2459G>A | ||
| ENST00000495234.5:c.*671G>A | ENSP00000435274.1:n.*671G>A | |
| NM_139025.4:c.1387G>A , LRG_544t1:c.1387G>A | NP_620594.1:p.Gly463Ser | |
| NM_139026.4:c.1294G>A | NP_620595.1:p.Gly432Ser | |
| NM_139027.4:c.1387G>A | NP_620596.2:p.Gly463Ser | |
| NR_024514.2:n.993-2459G>A | ||
| XM_011518174.1:c.997G>A | XP_011516476.1:p.Gly333Ser | |
| XM_011518175.1:c.1387G>A | XP_011516477.1:p.Gly463Ser | |
| XM_011518176.1:c.403G>A | XP_011516478.1:p.Gly135Ser | |
| XM_011518177.1:c.397G>A | XP_011516479.1:p.Gly133Ser | |
| XM_011518178.1:c.52G>A | XP_011516480.1:p.Gly18Ser | |
| XM_011518179.1:c.173G>A | XP_011516481.1:p.Trp58Ter | |
| XM_011518180.1:c.687-7956G>A | XP_011516482.1:n.687-7956G>A | |
| XM_011518176.3:c.403G>A | XP_011516478.1:p.Gly135Ser | |
| XM_011518178.2:c.52G>A | XP_011516480.1:p.Gly18Ser | |
| XM_017014232.1:c.1375G>A | XP_016869721.1:p.Gly459Ser | |
| XM_017014233.1:c.997G>A | XP_016869722.1:p.Gly333Ser | |
| XM_017014234.2:c.397G>A | XP_016869723.1:p.Gly133Ser | |
| XM_017014235.1:c.1387G>A | XP_016869724.1:p.Gly463Ser | |
| XR_001746171.1:n.2612G>A | ||
| NM_139026.5:c.1294G>A | NP_620595.1:p.Gly432Ser | |
| NM_139027.5:c.1387G>A | NP_620596.2:p.Gly463Ser | |
| NM_139025.5:c.1387G>A | NP_620594.1:p.Gly463Ser | |
| NM_139026.6:c.1294G>A | NP_620595.1:p.Gly432Ser | |
| NM_139027.6:c.1387G>A MANE Select | NP_620596.2:p.Gly463Ser | |
| NR_024514.3:n.995-2459G>A |