Linked Data
ClinVar Variation Id:
1008943
ClinVar RCV Id:
RCV001306360
dbSNP Id:
rs993782683
gnomAD v2:
3-52360234-C-A
gnomAD v4:
3-52326218-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52326218C>A , CM000665.2:g.52326218C>A | GRCh38 |
| NC_000003.11:g.52360234C>A , CM000665.1:g.52360234C>A | GRCh37 |
| NC_000003.10:g.52335274C>A | NCBI36 |
| NG_052911.1:g.14900C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.485C>A MANE Select | ENSP00000401514.2:p.Ala162Asp | |
| ENST00000420323.6:c.485C>A | ENSP00000401514.2:p.Ala162Asp | |
| ENST00000486752.5:n.746C>A | ||
| ENST00000497875.1:n.650C>A | ||
| NM_015512.4:c.485C>A | NP_056327.4:p.Ala162Asp | |
| XM_011533577.1:c.485C>A | XP_011531879.1:p.Ala162Asp | |
| XM_017006129.1:c.485C>A | XP_016861618.1:p.Ala162Asp | |
| XM_017006130.1:c.485C>A | XP_016861619.1:p.Ala162Asp | |
| XM_017006131.1:c.485C>A | XP_016861620.1:p.Ala162Asp | |
| XM_017006132.1:c.485C>A | XP_016861621.1:p.Ala162Asp | |
| XM_017006133.1:c.485C>A | XP_016861622.1:p.Ala162Asp | |
| XR_001740098.1:n.3634C>A | ||
| XR_001740099.1:n.3634C>A | ||
| NM_015512.5:c.485C>A MANE Select | NP_056327.4:p.Ala162Asp |