Linked Data
ClinVar Variation Id:
2137777
ClinVar RCV Id:
RCV003058490
dbSNP Id:
rs2060674564
gnomAD v4:
16-8811084-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811084C>G , CM000678.2:g.8811084C>G | GRCh38 |
| NC_000016.9:g.8904941C>G , CM000678.1:g.8904941C>G | GRCh37 |
| NC_000016.8:g.8812442C>G | NCBI36 |
| NG_009209.1:g.18272C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3521C>G | ||
| ENST00000682008.1:c.353C>G | ENSP00000507849.1:p.Thr118Ser | |
| ENST00000682393.1:c.184C>G | ENSP00000506774.1:p.Leu62Val | |
| ENST00000683094.1:c.*70-554C>G | ENSP00000508230.1:n.*70-554C>G | |
| ENST00000683274.1:c.348-554C>G | ENSP00000507262.1:n.348-554C>G | |
| ENST00000683435.1:c.*344-554C>G | ENSP00000508092.1:n.*344-554C>G | |
| ENST00000268261.9:c.353C>G MANE Select | ENSP00000268261.4:p.Thr118Ser | |
| ENST00000268261.8:c.353C>G | ENSP00000268261.4:p.Thr118Ser | |
| ENST00000562318.5:c.*75C>G | ENSP00000454395.1:n.*75C>G | |
| ENST00000564069.1:c.324C>G | ||
| ENST00000565221.5:c.184C>G | ENSP00000457932.1:p.Leu62Val | |
| ENST00000565896.5:c.*151C>G | ENSP00000456024.1:n.*151C>G | |
| ENST00000566540.5:c.*70-554C>G | ENSP00000454284.1:n.*70-554C>G | |
| ENST00000566604.5:c.348-554C>G | ENSP00000456774.1:n.348-554C>G | |
| ENST00000566983.5:c.272C>G | ENSP00000457956.1:p.Thr91Ser | |
| ENST00000567697.1:n.3521C>G | ||
| ENST00000568602.5:c.*206C>G | ENSP00000455066.1:n.*206C>G | |
| ENST00000569958.5:c.179-558C>G | ENSP00000456302.1:n.179-558C>G | |
| ENST00000570076.5:c.179-554C>G | ENSP00000456961.1:n.179-554C>G | |
| ENST00000570134.5:c.*70-554C>G | ENSP00000456275.1:n.*70-554C>G | |
| NM_000303.2:c.353C>G | NP_000294.1:p.Thr118Ser | |
| XM_005255372.3:c.353C>G | XP_005255429.1:p.Thr118Ser | |
| XM_005255373.3:c.104C>G | XP_005255430.1:p.Thr35Ser | |
| XM_005255374.3:c.104C>G | XP_005255431.1:p.Thr35Ser | |
| XM_011522538.1:c.353C>G | XP_011520840.1:p.Thr118Ser | |
| XM_011522539.1:c.-23C>G | XP_011520841.1:n.-23C>G | |
| XM_005255374.4:c.104C>G | XP_005255431.1:p.Thr35Ser | |
| NM_000303.3:c.353C>G MANE Select | NP_000294.1:p.Thr118Ser |