Linked Data
dbSNP Id:
rs370081995
gnomAD v3:
9-133454497-G-A
gnomAD v4:
9-133454497-G-A
MyVariant Identifiers:
chr9:g.133454497G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454497G>A , CM000671.2:g.133454497G>A | GRCh38 |
| NC_000009.10:g.135309440G>A | NCBI36 |
| NG_011934.2:g.45159G>A , LRG_544:g.45159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3127G>A MANE Select | ENSP00000347927.2:p.Asp1043Asn | |
| ENST00000355699.6:c.3127G>A | ENSP00000347927.2:p.Asp1043Asn | |
| ENST00000356589.6:c.3034G>A | ENSP00000348997.2:p.Asp1012Asn | |
| ENST00000371916.5:c.*596G>A | ENSP00000360984.2:n.*596G>A | |
| ENST00000371929.7:c.3127G>A | ENSP00000360997.3:p.Asp1043Asn | |
| ENST00000485925.5:n.1943G>A | ||
| NM_139025.4:c.3127G>A , LRG_544t1:c.3127G>A | NP_620594.1:p.Asp1043Asn | |
| NM_139026.4:c.3034G>A | NP_620595.1:p.Asp1012Asn | |
| NM_139027.4:c.3127G>A | NP_620596.2:p.Asp1043Asn | |
| NR_024514.2:n.1962G>A | ||
| XM_011518174.1:c.2737G>A | XP_011516476.1:p.Asp913Asn | |
| XM_011518175.1:c.3127G>A | XP_011516477.1:p.Asp1043Asn | |
| XM_011518176.1:c.2143G>A | XP_011516478.1:p.Asp715Asn | |
| XM_011518177.1:c.2137G>A | XP_011516479.1:p.Asp713Asn | |
| XM_011518178.1:c.1792G>A | XP_011516480.1:p.Asp598Asn | |
| XM_011518179.1:c.1792G>A | XP_011516481.1:p.Asp598Asn | |
| XM_011518180.1:c.1393G>A | XP_011516482.1:p.Asp465Asn | |
| XM_011518176.3:c.2143G>A | XP_011516478.1:p.Asp715Asn | |
| XM_011518178.2:c.1792G>A | XP_011516480.1:p.Asp598Asn | |
| XM_017014232.1:c.3115G>A | XP_016869721.1:p.Asp1039Asn | |
| XM_017014233.1:c.2737G>A | XP_016869722.1:p.Asp913Asn | |
| XM_017014234.2:c.2137G>A | XP_016869723.1:p.Asp713Asn | |
| NM_139026.5:c.3034G>A | NP_620595.1:p.Asp1012Asn | |
| NM_139027.5:c.3127G>A | NP_620596.2:p.Asp1043Asn | |
| NM_139025.5:c.3127G>A | NP_620594.1:p.Asp1043Asn | |
| NM_139026.6:c.3034G>A | NP_620595.1:p.Asp1012Asn | |
| NM_139027.6:c.3127G>A MANE Select | NP_620596.2:p.Asp1043Asn | |
| NR_024514.3:n.1964G>A |