Linked Data
ClinVar Variation Id:
7722
ClinVar RCV Id:
RCV000008161
dbSNP Id:
rs80338706
ExAC:
16:8941618 C / G
gnomAD v2:
16-8941618-C-G
gnomAD v4:
16-8847761-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847761C>G , CM000678.2:g.8847761C>G | GRCh38 |
| NC_000016.9:g.8941618C>G , CM000678.1:g.8941618C>G | GRCh37 |
| NC_000016.8:g.8849119C>G | NCBI36 |
| NG_009209.1:g.54949C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3845C>G | ||
| ENST00000682393.1:c.*258-1608C>G | ENSP00000506774.1:n.*258-1608C>G | |
| ENST00000683094.1:c.*262-1608C>G | ENSP00000508230.1:n.*262-1608C>G | |
| ENST00000683274.1:c.*180-1608C>G | ENSP00000507262.1:n.*180-1608C>G | |
| ENST00000683435.1:c.*573C>G | ENSP00000508092.1:n.*573C>G | |
| ENST00000268261.9:c.677C>G MANE Select | ENSP00000268261.4:p.Thr226Ser | |
| ENST00000268261.8:c.677C>G | ENSP00000268261.4:p.Thr226Ser | |
| ENST00000562025.1:n.211C>G | ||
| ENST00000562318.5:c.*399C>G | ENSP00000454395.1:n.*399C>G | |
| ENST00000565221.5:c.*295C>G | ENSP00000457932.1:n.*295C>G | |
| ENST00000566540.5:c.*299C>G | ENSP00000454284.1:n.*299C>G | |
| ENST00000566604.5:c.*217C>G | ENSP00000456774.1:n.*217C>G | |
| ENST00000566983.5:c.596C>G | ENSP00000457956.1:p.Thr199Ser | |
| ENST00000567697.1:n.3845C>G | ||
| ENST00000569958.5:c.404C>G | ENSP00000456302.1:p.Thr135Ser | |
| ENST00000570076.5:c.*135C>G | ENSP00000456961.1:n.*135C>G | |
| NM_000303.2:c.677C>G | NP_000294.1:p.Thr226Ser | |
| XM_005255374.3:c.428C>G | XP_005255431.1:p.Thr143Ser | |
| XM_011522538.1:c.640-7273C>G | XP_011520840.1:n.640-7273C>G | |
| XM_005255374.4:c.428C>G | XP_005255431.1:p.Thr143Ser | |
| NM_000303.3:c.677C>G MANE Select | NP_000294.1:p.Thr226Ser |