Linked Data
ClinVar Variation Id:
384134
ClinVar RCV Id:
RCV000894434
dbSNP Id:
rs7217779
ExAC:
17:463696 C / T
gnomAD v2:
17-463696-C-T
gnomAD v3:
17-560456-C-T
gnomAD v4:
17-560456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.560456C>T , CM000679.2:g.560456C>T | GRCh38 |
| NC_000017.10:g.463696C>T , CM000679.1:g.463696C>T | GRCh37 |
| NC_000017.9:g.410446C>T | NCBI36 |
| NG_034190.1:g.159401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.1587G>A | ENSP00000291074.5:p.Thr529= | |
| ENST00000437048.7:c.1674G>A MANE Select | ENSP00000401435.2:p.Thr558= | |
| ENST00000571805.6:c.1674G>A | ENSP00000459312.1:p.Thr558= | |
| ENST00000572334.7:c.1305G>A | ENSP00000506188.1:p.Thr435= | |
| ENST00000572607.2:n.504G>A | ||
| ENST00000679361.1:c.1674G>A | ENSP00000504978.1:p.Thr558= | |
| ENST00000679959.1:c.1207G>A | ENSP00000506180.1:n.1207G>A | |
| ENST00000680069.1:c.1674G>A | ENSP00000505145.1:p.Thr558= | |
| ENST00000680114.1:c.1200G>A | ENSP00000505327.1:p.Thr400= | |
| ENST00000680128.1:c.1470G>A | ENSP00000506159.1:p.Thr490= | |
| ENST00000680274.1:n.1236G>A | ||
| ENST00000680465.1:c.1674G>A | ENSP00000505997.1:p.Thr558= | |
| ENST00000680641.1:c.*1494G>A | ENSP00000505237.1:n.*1494G>A | |
| ENST00000680702.1:n.579G>A | ||
| ENST00000680704.1:c.1305G>A | ENSP00000506453.1:p.Thr435= | |
| ENST00000680872.1:c.*800G>A | ENSP00000506605.1:n.*800G>A | |
| ENST00000680944.1:n.1069G>A | ||
| ENST00000680958.1:n.1581G>A | ||
| ENST00000681096.1:c.1215G>A | ENSP00000506052.1:p.Thr405= | |
| ENST00000681154.1:c.1587G>A | ENSP00000505866.1:p.Thr529= | |
| ENST00000681160.1:c.1305G>A | ENSP00000504905.1:p.Thr435= | |
| ENST00000681317.1:c.1674G>A | ENSP00000505190.1:p.Thr558= | |
| ENST00000681478.1:c.*1494G>A | ENSP00000505041.1:n.*1494G>A | |
| ENST00000681510.1:c.1524G>A | ENSP00000505594.1:p.Thr508= | |
| ENST00000681600.1:n.769G>A | ||
| ENST00000681661.1:c.*655G>A | ENSP00000506596.1:n.*655G>A | |
| ENST00000681830.1:c.1223G>A | ENSP00000505322.1:n.1223G>A | |
| ENST00000681897.1:n.926G>A | ||
| ENST00000681902.1:c.1674G>A | ENSP00000505328.1:p.Thr558= | |
| ENST00000681917.1:c.1143G>A | ENSP00000505944.1:p.Thr381= | |
| ENST00000681943.1:c.1422+2047G>A | ENSP00000504889.1:n.1422+2047G>A | |
| ENST00000681946.1:c.*655G>A | ENSP00000505563.1:n.*655G>A | |
| ENST00000291074.9:c.1587G>A | ENSP00000291074.5:p.Thr529= | |
| ENST00000389040.9:c.1530G>A | ENSP00000373692.5:p.Thr510= | |
| ENST00000401468.7:c.843G>A | ENSP00000384294.3:p.Thr281= | |
| ENST00000437048.6:c.1674G>A | ENSP00000401435.2:p.Thr558= | |
| ENST00000571805.5:c.1674G>A | ENSP00000459312.1:p.Thr558= | |
| ENST00000572607.1:n.302G>A | ||
| ENST00000573028.5:c.*1121G>A | ENSP00000458311.1:n.*1121G>A | |
| ENST00000574029.5:c.207-42817G>A | ENSP00000459159.1:n.207-42817G>A | |
| ENST00000576149.5:n.1444G>A | ||
| NM_001128159.2:c.1674G>A | NP_001121631.1:p.Thr558= | |
| NM_018289.3:c.1587G>A | NP_060759.2:p.Thr529= | |
| XM_011523953.1:c.1080G>A | XP_011522255.1:p.Thr360= | |
| XR_934061.1:n.1971G>A | ||
| XR_934062.1:n.1726G>A | ||
| NM_001366253.1:c.1674G>A | NP_001353182.1:p.Thr558= | |
| NM_001366254.1:c.1080G>A | NP_001353183.1:p.Thr360= | |
| XM_017024817.2:c.1524G>A | XP_016880306.1:p.Thr508= | |
| XM_017024818.1:c.1305G>A | XP_016880307.1:p.Thr435= | |
| XR_001752553.2:n.1811G>A | ||
| XR_934061.3:n.1961G>A | ||
| XR_934062.2:n.1716G>A | ||
| NM_001128159.3:c.1674G>A MANE Select | NP_001121631.1:p.Thr558= | |
| NM_001366253.2:c.1674G>A | NP_001353182.1:p.Thr558= | |
| NM_001366254.2:c.1080G>A | NP_001353183.1:p.Thr360= | |
| NM_018289.4:c.1587G>A | NP_060759.2:p.Thr529= |