Linked Data
ClinVar Variation Id:
2817436
ClinVar RCV Id:
RCV003618487
dbSNP Id:
rs1166243253
gnomAD v4:
19-1226595-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226595C>A , CM000681.2:g.1226595C>A | GRCh38 |
| NC_000019.9:g.1226594C>A , CM000681.1:g.1226594C>A | GRCh37 |
| NC_000019.8:g.1177594C>A | NCBI36 |
| NG_007460.2:g.42189C>A , LRG_319:g.42189C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2851C>A | ENSP00000490268.2:n.*2851C>A | |
| ENST00000585748.3:c.878C>A | ENSP00000477641.2:p.Ala293Asp | |
| ENST00000585851.2:c.1076C>A | ENSP00000467912.2:p.Ala359Asp | |
| ENST00000326873.12:c.1250C>A MANE Select | ENSP00000324856.6:p.Ala417Asp | |
| ENST00000326873.11:c.1250C>A | ENSP00000324856.6:p.Ala417Asp | |
| ENST00000585465.2:n.2983C>A | ||
| ENST00000586243.5:c.1249C>A | ENSP00000467240.2:p.Pro417Thr | |
| ENST00000589152.5:n.1948C>A | ||
| NM_000455.4:c.1250C>A , LRG_319t1:c.1250C>A | NP_000446.1:p.Ala417Asp | |
| XM_005259617.1:c.1245C>A | XP_005259674.1:p.Gly415= | |
| XM_011528209.1:c.1023C>A | XP_011526511.1:p.Gly341= | |
| XM_005259617.3:c.1245C>A | XP_005259674.1:p.Gly415= | |
| XM_011528209.2:c.1023C>A | XP_011526511.1:p.Gly341= | |
| XR_001753738.2:n.2056C>A | ||
| XR_001753740.2:n.2026C>A | ||
| NM_000455.5:c.1250C>A MANE Select | NP_000446.1:p.Ala417Asp |