Linked Data
ClinVar Variation Id:
891887
dbSNP Id:
rs148005190
ExAC:
17:1674431 C / A
gnomAD v2:
17-1674431-C-A
gnomAD v3:
17-1771137-C-A
gnomAD v4:
17-1771137-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1771137C>A , CM000679.2:g.1771137C>A | GRCh38 |
| NC_000017.10:g.1674431C>A , CM000679.1:g.1674431C>A | GRCh37 |
| NC_000017.9:g.1621181C>A | NCBI36 |
| NG_028180.1:g.14173C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.392C>A MANE Select | ENSP00000254722.4:p.Ala131Asp | |
| ENST00000254722.8:c.392C>A | ENSP00000254722.4:p.Ala131Asp | |
| ENST00000570731.5:c.392C>A | ENSP00000459869.1:p.Ala131Asp | |
| ENST00000570820.1:n.612C>A | ||
| ENST00000571360.5:c.353C>A | ENSP00000461660.1:p.Ala118Asp | |
| ENST00000571870.5:n.633C>A | ||
| ENST00000573770.5:c.*242C>A | ENSP00000459107.1:n.*242C>A | |
| ENST00000576406.5:c.-170C>A | ENSP00000461214.1:n.-170C>A | |
| NM_002615.5:c.392C>A | NP_002606.3:p.Ala131Asp | |
| NM_001329903.1:c.392C>A | NP_001316832.1:p.Ala131Asp | |
| NM_001329904.1:c.-170C>A | NP_001316833.1:n.-170C>A | |
| NM_002615.6:c.392C>A | NP_002606.3:p.Ala131Asp | |
| NM_002615.7:c.392C>A MANE Select | NP_002606.3:p.Ala131Asp | |
| NM_001329903.2:c.392C>A | NP_001316832.1:p.Ala131Asp | |
| NM_001329904.2:c.-170C>A | NP_001316833.1:n.-170C>A |