Linked Data
dbSNP Id:
rs2130946718
gnomAD v4:
9-133456135-A-G
MyVariant Identifiers:
chr9:g.133456135A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133456135A>G , CM000671.2:g.133456135A>G | GRCh38 |
| NC_000009.10:g.135311078A>G | NCBI36 |
| NG_011934.2:g.46797A>G , LRG_544:g.46797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3467A>G MANE Select | ENSP00000347927.2:p.Asp1156Gly | |
| ENST00000355699.6:c.3467A>G | ENSP00000347927.2:p.Asp1156Gly | |
| ENST00000356589.6:c.3374A>G | ENSP00000348997.2:p.Asp1125Gly | |
| ENST00000371910.1:c.23A>G | ENSP00000360978.1:p.Asp8Gly | |
| ENST00000371916.5:c.*936A>G | ENSP00000360984.2:n.*936A>G | |
| ENST00000371929.7:c.3635A>G | ENSP00000360997.3:p.Asp1212Gly | |
| ENST00000485925.5:n.2283A>G | ||
| NM_139025.4:c.3635A>G , LRG_544t1:c.3635A>G | NP_620594.1:p.Asp1212Gly | |
| NM_139026.4:c.3374A>G | NP_620595.1:p.Asp1125Gly | |
| NM_139027.4:c.3467A>G | NP_620596.2:p.Asp1156Gly | |
| NR_024514.2:n.2302A>G | ||
| XM_011518174.1:c.3245A>G | XP_011516476.1:p.Asp1082Gly | |
| XM_011518175.1:c.*42A>G | XP_011516477.1:n.*42A>G | |
| XM_011518176.1:c.2651A>G | XP_011516478.1:p.Asp884Gly | |
| XM_011518177.1:c.2645A>G | XP_011516479.1:p.Asp882Gly | |
| XM_011518178.1:c.2300A>G | XP_011516480.1:p.Asp767Gly | |
| XM_011518179.1:c.2300A>G | XP_011516481.1:p.Asp767Gly | |
| XM_011518180.1:c.1901A>G | XP_011516482.1:p.Asp634Gly | |
| XM_011518176.3:c.2651A>G | XP_011516478.1:p.Asp884Gly | |
| XM_011518178.2:c.2300A>G | XP_011516480.1:p.Asp767Gly | |
| XM_017014232.1:c.3623A>G | XP_016869721.1:p.Asp1208Gly | |
| XM_017014233.1:c.3245A>G | XP_016869722.1:p.Asp1082Gly | |
| XM_017014234.2:c.2645A>G | XP_016869723.1:p.Asp882Gly | |
| NM_139026.5:c.3374A>G | NP_620595.1:p.Asp1125Gly | |
| NM_139027.5:c.3467A>G | NP_620596.2:p.Asp1156Gly | |
| NM_139025.5:c.3635A>G | NP_620594.1:p.Asp1212Gly | |
| NM_139026.6:c.3374A>G | NP_620595.1:p.Asp1125Gly | |
| NM_139027.6:c.3467A>G MANE Select | NP_620596.2:p.Asp1156Gly | |
| NR_024514.3:n.2304A>G |