Linked Data
ClinVar Variation Id:
1752173
dbSNP Id:
rs1422774752
gnomAD v3:
12-12717900-G-A
gnomAD v4:
12-12717900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717900G>A , CM000674.2:g.12717900G>A | GRCh38 |
| NC_000012.11:g.12870834G>A , CM000674.1:g.12870834G>A | GRCh37 |
| NC_000012.10:g.12762101G>A | NCBI36 |
| NG_016341.1:g.5533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.61G>A | ENSP00000507272.1:p.Ala21Thr | |
| ENST00000682620.1:n.1631-925G>A | ||
| ENST00000684771.1:n.585-925G>A | ||
| ENST00000228872.9:c.61G>A MANE Select | ENSP00000228872.4:p.Ala21Thr | |
| ENST00000228872.8:c.61G>A | ENSP00000228872.4:p.Ala21Thr | |
| ENST00000396340.1:c.61G>A | ENSP00000379629.1:p.Ala21Thr | |
| ENST00000442489.1:c.40G>A | ENSP00000407597.1:p.Ala14Thr | |
| ENST00000477087.1:n.155-925G>A | ||
| NM_004064.4:c.61G>A | NP_004055.1:p.Ala21Thr | |
| NM_004064.5:c.61G>A MANE Select | NP_004055.1:p.Ala21Thr |