Linked Data
ClinVar Variation Id:
260958
dbSNP Id:
rs141343307
ExAC:
17:78059817 C / A
gnomAD v2:
17-78059817-C-A
gnomAD v3:
17-80086018-C-A
gnomAD v4:
17-80086018-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80086018C>A , CM000679.2:g.80086018C>A | GRCh38 |
| NC_000017.10:g.78059817C>A , CM000679.1:g.78059817C>A | GRCh37 |
| NC_000017.9:g.75674412C>A | NCBI36 |
| NG_029761.1:g.54387C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2251C>A MANE Select | ENSP00000380679.4:p.Pro751Thr | |
| ENST00000374877.7:c.2251C>A | ENSP00000364011.3:p.Pro751Thr | |
| ENST00000397545.8:c.2251C>A | ENSP00000380679.4:p.Pro751Thr | |
| ENST00000572253.5:n.878C>A | ||
| ENST00000574799.5:n.1788C>A | ||
| NM_001243342.1:c.2251C>A | NP_001230271.1:p.Pro751Thr | |
| NM_017950.3:c.2251C>A | NP_060420.2:p.Pro751Thr | |
| XM_011524963.1:c.2161C>A | XP_011523265.1:p.Pro721Thr | |
| XM_011524964.1:c.1072C>A | XP_011523266.1:p.Pro358Thr | |
| XR_934495.1:n.2282C>A | ||
| XM_011524963.3:c.2161C>A | XP_011523265.1:p.Pro721Thr | |
| XM_011524964.3:c.1072C>A | XP_011523266.1:p.Pro358Thr | |
| XM_024450821.1:c.2161C>A | XP_024306589.1:p.Pro721Thr | |
| XR_001752550.2:n.2282C>A | ||
| XR_934495.2:n.2282C>A | ||
| NM_017950.4:c.2251C>A MANE Select | NP_060420.2:p.Pro751Thr | |
| NM_001243342.2:c.2251C>A | NP_001230271.1:p.Pro751Thr |