Linked Data
ClinVar Variation Id:
1210940
dbSNP Id:
rs748538778
ExAC:
22:41513565 C / A
gnomAD v2:
22-41513565-C-A
gnomAD v4:
22-41117561-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41117561C>A , CM000684.2:g.41117561C>A | GRCh38 |
| NC_000022.10:g.41513565C>A , CM000684.1:g.41513565C>A | GRCh37 |
| NC_000022.9:g.39843511C>A | NCBI36 |
| NG_009817.1:g.29952C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.469C>A | ENSP00000515365.1:p.Pro157Thr | |
| ENST00000703545.1:c.353C>A | ||
| ENST00000263253.9:c.469C>A MANE Select | ENSP00000263253.7:p.Pro157Thr | |
| ENST00000674155.1:c.469C>A | ENSP00000501078.1:p.Pro157Thr | |
| ENST00000263253.8:c.469C>A | ENSP00000263253.7:p.Pro157Thr | |
| NM_001429.3:c.469C>A | NP_001420.2:p.Pro157Thr | |
| XM_006724165.2:c.469C>A | XP_006724228.1:p.Pro157Thr | |
| NM_001362843.1:c.469C>A | NP_001349772.1:p.Pro157Thr | |
| NM_001429.4:c.469C>A MANE Select | NP_001420.2:p.Pro157Thr | |
| NM_001362843.2:c.469C>A | NP_001349772.1:p.Pro157Thr |