Linked Data
ClinVar Variation Id:
556179
dbSNP Id:
rs1375786834
gnomAD v2:
7-117230424-C-A
gnomAD v4:
7-117590370-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117590370C>A , CM000669.2:g.117590370C>A | GRCh38 |
| NC_000007.13:g.117230424C>A , CM000669.1:g.117230424C>A | GRCh37 |
| NC_000007.12:g.117017660C>A | NCBI36 |
| NG_016465.4:g.129587C>A , LRG_663:g.129587C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1697C>A | ENSP00000497673.2:p.Ala566Asp | |
| ENST00000647978.2:c.*1411C>A | ENSP00000497658.1:n.*1411C>A | |
| ENST00000649781.2:c.1514C>A | ENSP00000497203.1:p.Ala505Asp | |
| ENST00000685018.2:c.1697C>A | ENSP00000510194.2:p.Ala566Asp | |
| ENST00000687278.2:c.1697C>A | ENSP00000509593.2:p.Ala566Asp | |
| ENST00000699585.1:c.1697C>A | ENSP00000514456.1:p.Ala566Asp | |
| ENST00000699598.1:c.1697C>A | ENSP00000514467.1:p.Ala566Asp | |
| ENST00000699599.1:c.1697C>A | ENSP00000514468.1:p.Ala566Asp | |
| ENST00000699600.1:c.1697C>A | ENSP00000514469.1:p.Ala566Asp | |
| ENST00000699601.1:c.1692C>A | ENSP00000514470.1:p.Cys564Ter | |
| ENST00000699602.1:c.1697C>A | ENSP00000514471.1:p.Ala566Asp | |
| ENST00000699604.1:c.*1521C>A | ENSP00000514472.1:n.*1521C>A | |
| ENST00000699605.1:c.1271C>A | ENSP00000514473.1:p.Ala424Asp | |
| ENST00000003084.11:c.1697C>A MANE Select | ENSP00000003084.6:p.Ala566Asp | |
| ENST00000647978.1:c.*1411C>A | ENSP00000497658.1:n.*1411C>A | |
| ENST00000648260.1:c.1402-12456C>A | ENSP00000497957.1:n.1402-12456C>A | |
| ENST00000649406.1:c.1514C>A | ENSP00000497965.1:p.Ala505Asp | |
| ENST00000649781.1:c.1514C>A | ENSP00000497203.1:p.Ala505Asp | |
| ENST00000003084.10:c.1697C>A | ENSP00000003084.6:p.Ala566Asp | |
| ENST00000426809.5:c.1607C>A | ENSP00000389119.1:p.Ala536Asp | |
| NM_000492.3:c.1697C>A , LRG_663t1:c.1697C>A | NP_000483.3:p.Ala566Asp | |
| XM_011515751.1:c.1787C>A | XP_011514053.1:p.Ala596Asp | |
| XM_011515752.1:c.1787C>A | XP_011514054.1:p.Ala596Asp | |
| XM_011515753.1:c.1454C>A | XP_011514055.1:p.Ala485Asp | |
| XM_011515754.1:c.1454C>A | XP_011514056.1:p.Ala485Asp | |
| NM_000492.4:c.1697C>A MANE Select | NP_000483.3:p.Ala566Asp |