Linked Data
ClinVar Variation Id:
365131
dbSNP Id:
rs549769200
ExAC:
9:131267138 C / G
gnomAD v2:
9-131267138-C-G
gnomAD v3:
9-128504859-C-G
gnomAD v4:
9-128504859-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128504859C>G , CM000671.2:g.128504859C>G | GRCh38 |
| NC_000009.11:g.131267138C>G , CM000671.1:g.131267138C>G | GRCh37 |
| NC_000009.10:g.130306959C>G | NCBI36 |
| NG_012073.1:g.5168C>G , LRG_484:g.5168C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494417.2:n.158C>G | ||
| ENST00000682831.1:c.54C>G | ENSP00000508410.1:p.Asp18Glu | |
| ENST00000683044.1:c.54C>G | ENSP00000507095.1:p.Asp18Glu | |
| ENST00000683288.1:c.54C>G | ENSP00000507477.1:p.Asp18Glu | |
| ENST00000683748.1:c.54C>G | ENSP00000507377.1:p.Asp18Glu | |
| ENST00000683905.1:c.54C>G | ENSP00000506960.1:p.Asp18Glu | |
| ENST00000684139.1:c.54C>G | ENSP00000507295.1:p.Asp18Glu | |
| ENST00000684314.1:c.54C>G | ENSP00000507700.1:p.Asp18Glu | |
| ENST00000684331.1:c.54C>G | ENSP00000507431.1:p.Asp18Glu | |
| ENST00000684646.1:c.54C>G | ENSP00000507723.1:p.Asp18Glu | |
| ENST00000309971.9:c.54C>G MANE Select | ENSP00000308622.5:p.Asp18Glu | |
| ENST00000309971.8:c.54C>G | ENSP00000308622.4:p.Asp18Glu | |
| ENST00000372770.4:c.54C>G | ENSP00000361856.4:p.Asp18Glu | |
| NM_001003722.1:c.54C>G , LRG_484t1:c.54C>G | NP_001003722.1:p.Asp18Glu | |
| NM_001499.2:c.54C>G , LRG_484t2:c.54C>G | NP_001490.1:p.Asp18Glu | |
| XM_006717059.2:c.-63C>G | XP_006717122.1:n.-63C>G | |
| XM_006717060.2:c.-63C>G | XP_006717123.1:n.-63C>G | |
| XM_011518551.1:c.54C>G | XP_011516853.1:p.Asp18Glu | |
| XM_006717059.3:c.-63C>G | XP_006717122.1:n.-63C>G | |
| XM_006717060.3:c.-63C>G | XP_006717123.1:n.-63C>G | |
| XM_011518551.2:c.54C>G | XP_011516853.1:p.Asp18Glu | |
| NM_001003722.2:c.54C>G MANE Select | NP_001003722.1:p.Asp18Glu |