Linked Data
dbSNP Id:
rs776536590
ExAC:
17:436146 A / C
gnomAD v2:
17-436146-A-C
gnomAD v4:
17-532906-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.532906A>C , CM000679.2:g.532906A>C | GRCh38 |
| NC_000017.10:g.436146A>C , CM000679.1:g.436146A>C | GRCh37 |
| NC_000017.9:g.382896A>C | NCBI36 |
| NG_034190.1:g.186951T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.1934T>G | ENSP00000291074.5:p.Phe645Cys | |
| ENST00000437048.7:c.2021T>G MANE Select | ENSP00000401435.2:p.Phe674Cys | |
| ENST00000571805.6:c.2021T>G | ENSP00000459312.1:p.Phe674Cys | |
| ENST00000572334.7:c.1652T>G | ENSP00000506188.1:p.Phe551Cys | |
| ENST00000679817.1:c.251T>G | ENSP00000505032.1:p.Phe84Cys | |
| ENST00000680128.1:c.1817T>G | ENSP00000506159.1:p.Phe606Cys | |
| ENST00000680465.1:c.2021T>G | ENSP00000505997.1:p.Phe674Cys | |
| ENST00000680641.1:c.*3270T>G | ENSP00000505237.1:n.*3270T>G | |
| ENST00000680704.1:c.1652T>G | ENSP00000506453.1:p.Phe551Cys | |
| ENST00000680872.1:c.*1147T>G | ENSP00000506605.1:n.*1147T>G | |
| ENST00000681050.1:c.234T>G | ||
| ENST00000681096.1:c.1562T>G | ENSP00000506052.1:p.Phe521Cys | |
| ENST00000681103.1:c.251T>G | ENSP00000505892.1:p.Phe84Cys | |
| ENST00000681160.1:c.1652T>G | ENSP00000504905.1:p.Phe551Cys | |
| ENST00000681317.1:c.2015+4122T>G | ENSP00000505190.1:n.2015+4122T>G | |
| ENST00000681478.1:c.*1841T>G | ENSP00000505041.1:n.*1841T>G | |
| ENST00000681510.1:c.1871T>G | ENSP00000505594.1:p.Phe624Cys | |
| ENST00000681600.1:n.1116T>G | ||
| ENST00000681661.1:c.*1002T>G | ENSP00000506596.1:n.*1002T>G | |
| ENST00000681858.1:c.251T>G | ENSP00000505044.1:p.Phe84Cys | |
| ENST00000681917.1:c.1490T>G | ENSP00000505944.1:p.Phe497Cys | |
| ENST00000681943.1:c.1739T>G | ENSP00000504889.1:n.1739T>G | |
| ENST00000681946.1:c.*1002T>G | ENSP00000505563.1:n.*1002T>G | |
| ENST00000291074.9:c.1934T>G | ENSP00000291074.5:p.Phe645Cys | |
| ENST00000389040.9:c.1824T>G | ENSP00000373692.5:n.1824T>G | |
| ENST00000401468.7:c.1190T>G | ENSP00000384294.3:p.Phe397Cys | |
| ENST00000437048.6:c.2021T>G | ENSP00000401435.2:p.Phe674Cys | |
| ENST00000570771.1:n.88T>G | ||
| ENST00000571805.5:c.2021T>G | ENSP00000459312.1:p.Phe674Cys | |
| ENST00000573028.5:c.*1468T>G | ENSP00000458311.1:n.*1468T>G | |
| ENST00000574029.5:c.207-15267T>G | ENSP00000459159.1:n.207-15267T>G | |
| ENST00000576149.5:n.1791T>G | ||
| NM_001128159.2:c.2021T>G | NP_001121631.1:p.Phe674Cys | |
| NM_018289.3:c.1934T>G | NP_060759.2:p.Phe645Cys | |
| XM_011523953.1:c.1427T>G | XP_011522255.1:p.Phe476Cys | |
| XR_934061.1:n.2318T>G | ||
| XR_934133.1:n.291-7483A>C | ||
| NM_001366253.1:c.2021T>G | NP_001353182.1:p.Phe674Cys | |
| NM_001366254.1:c.1427T>G | NP_001353183.1:p.Phe476Cys | |
| XM_017024817.2:c.1871T>G | XP_016880306.1:p.Phe624Cys | |
| XM_017024818.1:c.1652T>G | XP_016880307.1:p.Phe551Cys | |
| XR_001752553.2:n.2158T>G | ||
| XR_934061.3:n.2308T>G | ||
| NM_001128159.3:c.2021T>G MANE Select | NP_001121631.1:p.Phe674Cys | |
| NM_001366253.2:c.2021T>G | NP_001353182.1:p.Phe674Cys | |
| NM_001366254.2:c.1427T>G | NP_001353183.1:p.Phe476Cys | |
| NM_018289.4:c.1934T>G | NP_060759.2:p.Phe645Cys |