Linked Data
ClinVar Variation Id:
458621
ClinVar RCV Id:
RCV000534418
dbSNP Id:
rs112454391
ExAC:
16:88907463 G / A
gnomAD v2:
16-88907463-G-A
gnomAD v3:
16-88841055-G-A
gnomAD v4:
16-88841055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88841055G>A , CM000678.2:g.88841055G>A | GRCh38 |
| NC_000016.9:g.88907463G>A , CM000678.1:g.88907463G>A | GRCh37 |
| NC_000016.8:g.87434964G>A | NCBI36 |
| NG_008667.1:g.20912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.359C>T MANE Select | ENSP00000268695.5:p.Ser120Leu | |
| ENST00000268695.9:c.359C>T | ENSP00000268695.5:p.Ser120Leu | |
| ENST00000562593.5:n.3768C>T | ||
| ENST00000562831.1:c.143C>T | ENSP00000455174.1:p.Ser48Leu | |
| ENST00000565364.1:n.494C>T | ||
| ENST00000567525.5:c.184C>T | ENSP00000454484.1:p.Arg62Trp | |
| ENST00000567779.1:n.189C>T | ||
| ENST00000568613.5:c.478C>T | ENSP00000457921.1:n.478C>T | |
| NM_000512.4:c.359C>T | NP_000503.1:p.Ser120Leu | |
| XM_005256301.2:c.359C>T | XP_005256358.1:p.Ser120Leu | |
| XM_005256302.1:c.377C>T | XP_005256359.1:p.Ser126Leu | |
| XM_011522982.1:c.377C>T | XP_011521284.1:p.Ser126Leu | |
| XM_011522984.1:c.377C>T | XP_011521286.1:p.Ser126Leu | |
| NM_001323543.1:c.-197C>T | NP_001310472.1:n.-197C>T | |
| NM_001323544.1:c.377C>T | NP_001310473.1:p.Ser126Leu | |
| XM_005256301.3:c.359C>T | XP_005256358.1:p.Ser120Leu | |
| XM_011522982.2:c.377C>T | XP_011521284.1:p.Ser126Leu | |
| XM_017023111.2:c.377C>T | XP_016878600.1:p.Ser126Leu | |
| XM_017023112.2:c.377C>T | XP_016878601.1:p.Ser126Leu | |
| XM_017023113.1:c.-197C>T | XP_016878602.1:n.-197C>T | |
| NM_000512.5:c.359C>T MANE Select | NP_000503.1:p.Ser120Leu | |
| NM_001323543.2:c.-197C>T | NP_001310472.1:n.-197C>T | |
| NM_001323544.2:c.377C>T | NP_001310473.1:p.Ser126Leu |