Linked Data
dbSNP Id:
rs1373440842
gnomAD v3:
9-133443417-G-C
gnomAD v4:
9-133443417-G-C
MyVariant Identifiers:
chr9:g.133443417G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133443417G>C , CM000671.2:g.133443417G>C | GRCh38 |
| NC_000009.10:g.135298359G>C | NCBI36 |
| NG_011934.2:g.34079G>C , LRG_544:g.34079G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.2276G>C MANE Select | ENSP00000347927.2:p.Gly759Ala | |
| ENST00000355699.6:c.2276G>C | ENSP00000347927.2:p.Gly759Ala | |
| ENST00000356589.6:c.2183G>C | ENSP00000348997.2:p.Gly728Ala | |
| ENST00000371916.5:c.1225-1446G>C | ENSP00000360984.2:n.1225-1446G>C | |
| ENST00000371929.7:c.2276G>C | ENSP00000360997.3:p.Gly759Ala | |
| ENST00000474918.1:c.*814G>C | ENSP00000435305.1:n.*814G>C | |
| ENST00000485925.5:n.1237-1446G>C | ||
| ENST00000495234.5:c.*1253-1446G>C | ENSP00000435274.1:n.*1253-1446G>C | |
| NM_139025.4:c.2276G>C , LRG_544t1:c.2276G>C | NP_620594.1:p.Gly759Ala | |
| NM_139026.4:c.2183G>C | NP_620595.1:p.Gly728Ala | |
| NM_139027.4:c.2276G>C | NP_620596.2:p.Gly759Ala | |
| NR_024514.2:n.1256-1446G>C | ||
| XM_011518174.1:c.1886G>C | XP_011516476.1:p.Gly629Ala | |
| XM_011518175.1:c.2276G>C | XP_011516477.1:p.Gly759Ala | |
| XM_011518176.1:c.1292G>C | XP_011516478.1:p.Gly431Ala | |
| XM_011518177.1:c.1286G>C | XP_011516479.1:p.Gly429Ala | |
| XM_011518178.1:c.941G>C | XP_011516480.1:p.Gly314Ala | |
| XM_011518179.1:c.941G>C | XP_011516481.1:p.Gly314Ala | |
| XM_011518180.1:c.687-1446G>C | XP_011516482.1:n.687-1446G>C | |
| XM_011518176.3:c.1292G>C | XP_011516478.1:p.Gly431Ala | |
| XM_011518178.2:c.941G>C | XP_011516480.1:p.Gly314Ala | |
| XM_017014232.1:c.2264G>C | XP_016869721.1:p.Gly755Ala | |
| XM_017014233.1:c.1886G>C | XP_016869722.1:p.Gly629Ala | |
| XM_017014234.2:c.1286G>C | XP_016869723.1:p.Gly429Ala | |
| XM_017014235.1:c.2234+674G>C | XP_016869724.1:n.2234+674G>C | |
| XR_001746171.1:n.3194-1446G>C | ||
| NM_139026.5:c.2183G>C | NP_620595.1:p.Gly728Ala | |
| NM_139027.5:c.2276G>C | NP_620596.2:p.Gly759Ala | |
| NM_139025.5:c.2276G>C | NP_620594.1:p.Gly759Ala | |
| NM_139026.6:c.2183G>C | NP_620595.1:p.Gly728Ala | |
| NM_139027.6:c.2276G>C MANE Select | NP_620596.2:p.Gly759Ala | |
| NR_024514.3:n.1258-1446G>C |