Linked Data
ClinVar Variation Id:
411570
ClinVar RCV Id:
RCV003766605
dbSNP Id:
rs759944784
gnomAD v2:
6-52344531-C-A
gnomAD v3:
6-52479733-C-A
gnomAD v4:
6-52479733-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479733C>A , CM000668.2:g.52479733C>A | GRCh38 |
| NC_000006.11:g.52344531C>A , CM000668.1:g.52344531C>A | GRCh37 |
| NC_000006.10:g.52452490C>A | NCBI36 |
| NG_016760.1:g.64538C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1586C>A MANE Select | ENSP00000360107.4:p.Ala529Glu | |
| ENST00000480623.6:c.1586C>A | ENSP00000434498.2:p.Ala529Glu | |
| ENST00000635760.1:c.1262C>A | ENSP00000489765.1:p.Ala421Glu | |
| ENST00000635812.1:c.*887C>A | ENSP00000490859.1:n.*887C>A | |
| ENST00000635866.1:c.*1455C>A | ENSP00000489866.1:n.*1455C>A | |
| ENST00000635911.1:n.3104C>A | ||
| ENST00000635984.1:c.1262C>A | ENSP00000489921.1:p.Ala421Glu | |
| ENST00000635996.1:c.1586C>A | ENSP00000490256.1:p.Ala529Glu | |
| ENST00000636107.1:c.1586C>A | ENSP00000489680.1:p.Ala529Glu | |
| ENST00000636311.1:n.1480C>A | ||
| ENST00000636343.1:c.1252C>A | ||
| ENST00000636379.1:c.1298C>A | ENSP00000490622.1:p.Ala433Glu | |
| ENST00000636398.1:c.1286C>A | ENSP00000489654.1:n.1286C>A | |
| ENST00000636489.1:c.1529C>A | ENSP00000489998.1:p.Ala510Glu | |
| ENST00000636616.1:n.1147C>A | ||
| ENST00000636702.1:c.1556C>A | ENSP00000489623.1:p.Ala519Glu | |
| ENST00000636954.1:c.1529C>A | ENSP00000489966.1:p.Ala510Glu | |
| ENST00000637089.1:c.1586C>A | ENSP00000489854.1:p.Ala529Glu | |
| ENST00000637121.1:n.1388C>A | ||
| ENST00000637263.1:c.1586C>A | ENSP00000489700.1:p.Ala529Glu | |
| ENST00000637340.1:n.3511C>A | ||
| ENST00000637353.1:c.1586C>A | ENSP00000490441.1:p.Ala529Glu | |
| ENST00000637602.1:c.*1287C>A | ENSP00000490074.1:n.*1287C>A | |
| ENST00000637849.1:n.1650C>A | ||
| ENST00000637892.1:n.1790C>A | ||
| ENST00000371068.9:c.1586C>A | ENSP00000360107.4:p.Ala529Glu | |
| ENST00000480623.5:c.*2006C>A | ENSP00000434498.1:n.*2006C>A | |
| ENST00000538167.2:c.1529C>A | ENSP00000444521.1:p.Ala510Glu | |
| NM_001172420.1:c.1529C>A | NP_001165891.1:p.Ala510Glu | |
| NM_018100.3:c.1586C>A | NP_060570.2:p.Ala529Glu | |
| NR_033327.1:n.3058C>A | ||
| NM_018100.4:c.1586C>A MANE Select | NP_060570.2:p.Ala529Glu | |
| NM_001172420.2:c.1529C>A | NP_001165891.1:p.Ala510Glu | |
| NR_033327.2:n.2912C>A |