Linked Data
ClinVar Variation Id:
307663
dbSNP Id:
rs2066827
ExAC:
12:12871099 T / A
gnomAD v2:
12-12871099-T-A
gnomAD v3:
12-12718165-T-A
gnomAD v4:
12-12718165-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718165T>A , CM000674.2:g.12718165T>A | GRCh38 |
| NC_000012.11:g.12871099T>A , CM000674.1:g.12871099T>A | GRCh37 |
| NC_000012.10:g.12762366T>A | NCBI36 |
| NG_016341.1:g.5798T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.326T>A | ENSP00000507272.1:p.Val109Asp | |
| ENST00000682620.1:n.1631-660T>A | ||
| ENST00000684771.1:n.585-660T>A | ||
| ENST00000228872.9:c.326T>A MANE Select | ENSP00000228872.4:p.Val109Asp | |
| ENST00000228872.8:c.326T>A | ENSP00000228872.4:p.Val109Asp | |
| ENST00000396340.1:c.326T>A | ENSP00000379629.1:p.Val109Asp | |
| ENST00000442489.1:c.193+112T>A | ENSP00000407597.1:n.193+112T>A | |
| ENST00000477087.1:n.155-660T>A | ||
| NM_004064.4:c.326T>A | NP_004055.1:p.Val109Asp | |
| NM_004064.5:c.326T>A MANE Select | NP_004055.1:p.Val109Asp |