Linked Data
ClinVar Variation Id:
525539
ClinVar RCV Id:
RCV000629616
dbSNP Id:
rs200678214
ExAC:
17:78021185 C / T
gnomAD v2:
17-78021185-C-T
gnomAD v3:
17-80047386-C-T
gnomAD v4:
17-80047386-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80047386C>T , CM000679.2:g.80047386C>T | GRCh38 |
| NC_000017.10:g.78021185C>T , CM000679.1:g.78021185C>T | GRCh37 |
| NC_000017.9:g.75635780C>T | NCBI36 |
| NG_029761.1:g.15755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.660C>T MANE Select | ENSP00000380679.4:p.Phe220= | |
| ENST00000269318.9:c.660C>T | ENSP00000269318.5:p.Phe220= | |
| ENST00000374876.4:c.660C>T | ENSP00000364010.4:p.Phe220= | |
| ENST00000374877.7:c.660C>T | ENSP00000364011.3:p.Phe220= | |
| ENST00000397545.8:c.660C>T | ENSP00000380679.4:p.Phe220= | |
| ENST00000573474.5:c.114C>T | ||
| ENST00000576241.1:n.646C>T | ||
| NM_001243342.1:c.660C>T | NP_001230271.1:p.Phe220= | |
| NM_017950.3:c.660C>T | NP_060420.2:p.Phe220= | |
| XM_005257492.3:c.660C>T | XP_005257549.1:p.Phe220= | |
| XM_011524963.1:c.570C>T | XP_011523265.1:p.Phe190= | |
| XM_011524965.1:c.660C>T | XP_011523267.1:p.Phe220= | |
| XR_934495.1:n.691C>T | ||
| NM_001330508.1:c.660C>T | NP_001317437.1:p.Phe220= | |
| XM_011524963.3:c.570C>T | XP_011523265.1:p.Phe190= | |
| XM_011524965.3:c.660C>T | XP_011523267.1:p.Phe220= | |
| XM_017024807.1:c.660C>T | XP_016880296.1:p.Phe220= | |
| XM_024450821.1:c.570C>T | XP_024306589.1:p.Phe190= | |
| XR_001752550.2:n.691C>T | ||
| XR_934495.2:n.691C>T | ||
| NM_017950.4:c.660C>T MANE Select | NP_060420.2:p.Phe220= | |
| NM_001330508.2:c.660C>T | NP_001317437.1:p.Phe220= | |
| NM_001243342.2:c.660C>T | NP_001230271.1:p.Phe220= |