Linked Data
ClinVar Variation Id:
2442175
ClinVar RCV Id:
RCV003148506
dbSNP Id:
rs145714866
gnomAD v2:
16-8904954-C-G
gnomAD v4:
16-8811097-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8811097C>G , CM000678.2:g.8811097C>G | GRCh38 |
| NC_000016.9:g.8904954C>G , CM000678.1:g.8904954C>G | GRCh37 |
| NC_000016.8:g.8812455C>G | NCBI36 |
| NG_009209.1:g.18285C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3534C>G | ||
| ENST00000682008.1:c.366C>G | ENSP00000507849.1:p.Phe122Leu | |
| ENST00000682393.1:c.197C>G | ENSP00000506774.1:p.Ser66Cys | |
| ENST00000683094.1:c.*70-541C>G | ENSP00000508230.1:n.*70-541C>G | |
| ENST00000683274.1:c.348-541C>G | ENSP00000507262.1:n.348-541C>G | |
| ENST00000683435.1:c.*344-541C>G | ENSP00000508092.1:n.*344-541C>G | |
| ENST00000268261.9:c.366C>G MANE Select | ENSP00000268261.4:p.Phe122Leu | |
| ENST00000268261.8:c.366C>G | ENSP00000268261.4:p.Phe122Leu | |
| ENST00000562318.5:c.*88C>G | ENSP00000454395.1:n.*88C>G | |
| ENST00000564069.1:c.337C>G | ||
| ENST00000565221.5:c.197C>G | ENSP00000457932.1:p.Ser66Cys | |
| ENST00000565896.5:c.*164C>G | ENSP00000456024.1:n.*164C>G | |
| ENST00000566540.5:c.*70-541C>G | ENSP00000454284.1:n.*70-541C>G | |
| ENST00000566604.5:c.348-541C>G | ENSP00000456774.1:n.348-541C>G | |
| ENST00000566983.5:c.285C>G | ENSP00000457956.1:p.Phe95Leu | |
| ENST00000567697.1:n.3534C>G | ||
| ENST00000568602.5:c.*219C>G | ENSP00000455066.1:n.*219C>G | |
| ENST00000569958.5:c.179-545C>G | ENSP00000456302.1:n.179-545C>G | |
| ENST00000570076.5:c.179-541C>G | ENSP00000456961.1:n.179-541C>G | |
| ENST00000570134.5:c.*70-541C>G | ENSP00000456275.1:n.*70-541C>G | |
| NM_000303.2:c.366C>G | NP_000294.1:p.Phe122Leu | |
| XM_005255372.3:c.366C>G | XP_005255429.1:p.Phe122Leu | |
| XM_005255373.3:c.117C>G | XP_005255430.1:p.Phe39Leu | |
| XM_005255374.3:c.117C>G | XP_005255431.1:p.Phe39Leu | |
| XM_011522538.1:c.366C>G | XP_011520840.1:p.Phe122Leu | |
| XM_011522539.1:c.-10C>G | XP_011520841.1:n.-10C>G | |
| XM_005255374.4:c.117C>G | XP_005255431.1:p.Phe39Leu | |
| NM_000303.3:c.366C>G MANE Select | NP_000294.1:p.Phe122Leu |