Linked Data
dbSNP Id:
rs376017677
gnomAD v3:
9-133454537-C-G
gnomAD v4:
9-133454537-C-G
MyVariant Identifiers:
chr9:g.133454537C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454537C>G , CM000671.2:g.133454537C>G | GRCh38 |
| NC_000009.10:g.135309480C>G | NCBI36 |
| NG_011934.2:g.45199C>G , LRG_544:g.45199C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3167C>G MANE Select | ENSP00000347927.2:p.Ala1056Gly | |
| ENST00000355699.6:c.3167C>G | ENSP00000347927.2:p.Ala1056Gly | |
| ENST00000356589.6:c.3074C>G | ENSP00000348997.2:p.Ala1025Gly | |
| ENST00000371916.5:c.*636C>G | ENSP00000360984.2:n.*636C>G | |
| ENST00000371929.7:c.3167C>G | ENSP00000360997.3:p.Ala1056Gly | |
| ENST00000485925.5:n.1983C>G | ||
| NM_139025.4:c.3167C>G , LRG_544t1:c.3167C>G | NP_620594.1:p.Ala1056Gly | |
| NM_139026.4:c.3074C>G | NP_620595.1:p.Ala1025Gly | |
| NM_139027.4:c.3167C>G | NP_620596.2:p.Ala1056Gly | |
| NR_024514.2:n.2002C>G | ||
| XM_011518174.1:c.2777C>G | XP_011516476.1:p.Ala926Gly | |
| XM_011518175.1:c.3167C>G | XP_011516477.1:p.Ala1056Gly | |
| XM_011518176.1:c.2183C>G | XP_011516478.1:p.Ala728Gly | |
| XM_011518177.1:c.2177C>G | XP_011516479.1:p.Ala726Gly | |
| XM_011518178.1:c.1832C>G | XP_011516480.1:p.Ala611Gly | |
| XM_011518179.1:c.1832C>G | XP_011516481.1:p.Ala611Gly | |
| XM_011518180.1:c.1433C>G | XP_011516482.1:p.Ala478Gly | |
| XM_011518176.3:c.2183C>G | XP_011516478.1:p.Ala728Gly | |
| XM_011518178.2:c.1832C>G | XP_011516480.1:p.Ala611Gly | |
| XM_017014232.1:c.3155C>G | XP_016869721.1:p.Ala1052Gly | |
| XM_017014233.1:c.2777C>G | XP_016869722.1:p.Ala926Gly | |
| XM_017014234.2:c.2177C>G | XP_016869723.1:p.Ala726Gly | |
| NM_139026.5:c.3074C>G | NP_620595.1:p.Ala1025Gly | |
| NM_139027.5:c.3167C>G | NP_620596.2:p.Ala1056Gly | |
| NM_139025.5:c.3167C>G | NP_620594.1:p.Ala1056Gly | |
| NM_139026.6:c.3074C>G | NP_620595.1:p.Ala1025Gly | |
| NM_139027.6:c.3167C>G MANE Select | NP_620596.2:p.Ala1056Gly | |
| NR_024514.3:n.2004C>G |