Linked Data
ClinVar Variation Id:
525571
dbSNP Id:
rs375199947
ExAC:
17:78032381 C / T
gnomAD v2:
17-78032381-C-T
gnomAD v3:
17-80058582-C-T
gnomAD v4:
17-80058582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80058582C>T , CM000679.2:g.80058582C>T | GRCh38 |
| NC_000017.10:g.78032381C>T , CM000679.1:g.78032381C>T | GRCh37 |
| NC_000017.9:g.75646976C>T | NCBI36 |
| NG_029761.1:g.26951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.1248C>T MANE Select | ENSP00000380679.4:p.Arg416= | |
| ENST00000269318.9:c.1248C>T | ENSP00000269318.5:p.Arg416= | |
| ENST00000374876.4:c.1248C>T | ENSP00000364010.4:p.Arg416= | |
| ENST00000374877.7:c.1248C>T | ENSP00000364011.3:p.Arg416= | |
| ENST00000397545.8:c.1248C>T | ENSP00000380679.4:p.Arg416= | |
| ENST00000574799.5:n.785C>T | ||
| NM_001243342.1:c.1248C>T | NP_001230271.1:p.Arg416= | |
| NM_017950.3:c.1248C>T | NP_060420.2:p.Arg416= | |
| XM_005257492.3:c.1248C>T | XP_005257549.1:p.Arg416= | |
| XM_011524963.1:c.1158C>T | XP_011523265.1:p.Arg386= | |
| XM_011524964.1:c.69C>T | XP_011523266.1:p.Arg23= | |
| XM_011524965.1:c.1248C>T | XP_011523267.1:p.Arg416= | |
| XR_934495.1:n.1279C>T | ||
| NM_001330508.1:c.1248C>T | NP_001317437.1:p.Arg416= | |
| XM_011524963.3:c.1158C>T | XP_011523265.1:p.Arg386= | |
| XM_011524964.3:c.69C>T | XP_011523266.1:p.Arg23= | |
| XM_011524965.3:c.1248C>T | XP_011523267.1:p.Arg416= | |
| XM_017024807.1:c.1248C>T | XP_016880296.1:p.Arg416= | |
| XM_024450821.1:c.1158C>T | XP_024306589.1:p.Arg386= | |
| XR_001752550.2:n.1279C>T | ||
| XR_934495.2:n.1279C>T | ||
| NM_017950.4:c.1248C>T MANE Select | NP_060420.2:p.Arg416= | |
| NM_001330508.2:c.1248C>T | NP_001317437.1:p.Arg416= | |
| NM_001243342.2:c.1248C>T | NP_001230271.1:p.Arg416= |