Linked Data
ClinVar Variation Id:
1312908
ClinVar RCV Id:
RCV001774362
dbSNP Id:
rs1296885198
gnomAD v2:
1-27022916-G-A
gnomAD v4:
1-26696425-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696425G>A , CM000663.2:g.26696425G>A | GRCh38 |
| NC_000001.10:g.27022916G>A , CM000663.1:g.27022916G>A | GRCh37 |
| NC_000001.9:g.26895503G>A | NCBI36 |
| NG_029965.1:g.5395G>A , LRG_875:g.5395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.22G>A MANE Select | ENSP00000320485.7:p.Ala8Thr | |
| ENST00000430799.7:c.-13+2808G>A | ENSP00000390317.3:n.-13+2808G>A | |
| ENST00000637465.1:c.-13+325G>A | ENSP00000490650.1:n.-13+325G>A | |
| ENST00000324856.11:c.22G>A | ENSP00000320485.7:p.Ala8Thr | |
| ENST00000457599.6:c.22G>A | ENSP00000387636.2:p.Ala8Thr | |
| NM_006015.4:c.22G>A , LRG_875t1:c.22G>A | NP_006006.3:p.Ala8Thr | |
| NM_139135.2:c.22G>A | NP_624361.1:p.Ala8Thr | |
| NM_006015.5:c.22G>A | NP_006006.3:p.Ala8Thr | |
| NM_139135.3:c.22G>A | NP_624361.1:p.Ala8Thr | |
| NM_006015.6:c.22G>A MANE Select | NP_006006.3:p.Ala8Thr | |
| NM_139135.4:c.22G>A | NP_624361.1:p.Ala8Thr |