Linked Data
ClinVar Variation Id:
1480188
ClinVar RCV Id:
RCV001991230
dbSNP Id:
rs956013468
gnomAD v3:
17-44352032-C-A
gnomAD v4:
17-44352032-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352032C>A , CM000679.2:g.44352032C>A | GRCh38 |
| NC_000017.10:g.42429400C>A , CM000679.1:g.42429400C>A | GRCh37 |
| NC_000017.9:g.39784926C>A | NCBI36 |
| NG_007886.1:g.11910C>A , LRG_661:g.11910C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1197C>A MANE Select | ENSP00000053867.2:p.Asp399Glu | |
| ENST00000639447.1:c.1136+280C>A | ENSP00000492014.1:n.1136+280C>A | |
| ENST00000053867.7:c.1197C>A | ENSP00000053867.2:p.Asp399Glu | |
| ENST00000586443.1:c.638C>A | ||
| ENST00000589265.5:c.726C>A | ENSP00000467616.1:p.Asp242Glu | |
| NM_002087.3:c.1197C>A | NP_002078.1:p.Asp399Glu | |
| XM_005257253.1:c.1197C>A | XP_005257310.1:p.Asp399Glu | |
| XM_024450730.1:c.1197C>A | XP_024306498.1:p.Asp399Glu | |
| NM_002087.4:c.1197C>A MANE Select | NP_002078.1:p.Asp399Glu |