Linked Data
ClinVar Variation Id:
992704
ClinVar RCV Id:
RCV001281420
dbSNP Id:
rs1402734026
gnomAD v3:
11-6393916-C-A
gnomAD v4:
11-6393916-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393916C>A , CM000673.2:g.6393916C>A | GRCh38 |
| NC_000011.9:g.6415146C>A , CM000673.1:g.6415146C>A | GRCh37 |
| NC_000011.8:g.6371722C>A | NCBI36 |
| NG_011780.1:g.8492C>A | |
| NG_029615.1:g.30499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1361C>A MANE Select | ENSP00000340409.4:p.Ala454Asp | |
| ENST00000342245.8:c.1361C>A | ENSP00000340409.4:p.Ala454Asp | |
| ENST00000526280.1:c.418C>A | ||
| ENST00000527275.5:c.1358C>A | ENSP00000435350.1:p.Ala453Asp | |
| ENST00000531303.5:c.*192C>A | ENSP00000432625.1:n.*192C>A | |
| ENST00000531336.1:n.193C>A | ||
| ENST00000532367.1:n.197C>A | ||
| ENST00000533123.5:c.*88C>A | ENSP00000435950.1:n.*88C>A | |
| ENST00000534405.5:c.*192C>A | ENSP00000434353.1:n.*192C>A | |
| NM_000543.4:c.1361C>A | NP_000534.3:p.Ala454Asp | |
| NM_001007593.2:c.1358C>A | NP_001007594.2:p.Ala453Asp | |
| XM_005253075.3:c.1361C>A | XP_005253132.1:p.Ala454Asp | |
| XM_011520303.1:c.1229C>A | XP_011518605.1:p.Ala410Asp | |
| XM_011520304.1:c.1229C>A | XP_011518606.1:p.Ala410Asp | |
| XR_930886.1:n.1699C>A | ||
| NM_001318087.1:c.1361C>A | NP_001305016.1:p.Ala454Asp | |
| NM_001318088.1:c.440C>A | NP_001305017.1:p.Ala147Asp | |
| NM_001365135.1:c.1229C>A | NP_001352064.1:p.Ala410Asp | |
| NR_027400.2:n.1374C>A | ||
| NR_134502.1:n.893C>A | ||
| XM_011520304.2:c.1229C>A | XP_011518606.1:p.Ala410Asp | |
| XR_001747940.2:n.1526C>A | ||
| XR_002957158.1:n.1728C>A | ||
| NM_000543.5:c.1361C>A MANE Select | NP_000534.3:p.Ala454Asp | |
| NM_001007593.3:c.1358C>A | NP_001007594.2:p.Ala453Asp | |
| NM_001318087.2:c.1361C>A | NP_001305016.1:p.Ala454Asp | |
| NM_001318088.2:c.440C>A | NP_001305017.1:p.Ala147Asp | |
| NM_001365135.2:c.1229C>A | NP_001352064.1:p.Ala410Asp | |
| NR_027400.3:n.1314C>A | ||
| NR_134502.2:n.833C>A |