Linked Data
ClinVar Variation Id:
1059427
ClinVar RCV Id:
RCV001368703
dbSNP Id:
rs962066178
gnomAD v2:
17-15903274-C-A
gnomAD v3:
17-15999960-C-A
gnomAD v4:
17-15999960-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999960C>A , CM000679.2:g.15999960C>A | GRCh38 |
| NC_000017.10:g.15903274C>A , CM000679.1:g.15903274C>A | GRCh37 |
| NC_000017.9:g.15843999C>A | NCBI36 |
| NG_029806.1:g.5581C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.112C>A MANE Select | ENSP00000261647.5:p.Pro38Thr | |
| ENST00000261647.9:c.112C>A | ENSP00000261647.5:p.Pro38Thr | |
| ENST00000466729.5:c.177C>A | ||
| ENST00000470399.1:c.127C>A | ENSP00000465082.1:p.Pro43Thr | |
| ENST00000475723.5:c.159C>A | ||
| ENST00000497842.6:n.137C>A | ||
| ENST00000583704.1:n.137C>A | ||
| NM_001271420.1:c.-347C>A | NP_001258349.1:n.-347C>A | |
| NM_017775.3:c.112C>A | NP_060245.3:p.Pro38Thr | |
| XM_011523950.1:c.112C>A | XP_011522252.1:p.Pro38Thr | |
| XM_017024801.2:c.112C>A | XP_016880290.2:p.Pro38Thr | |
| XM_017024802.2:c.112C>A | XP_016880291.2:p.Pro38Thr | |
| XM_024450814.1:c.112C>A | XP_024306582.1:p.Pro38Thr | |
| NM_017775.4:c.112C>A MANE Select | NP_060245.3:p.Pro38Thr | |
| NM_001271420.2:c.-347C>A | NP_001258349.1:n.-347C>A |