Linked Data
ClinVar Variation Id:
2880274
ClinVar RCV Id:
RCV003713217
dbSNP Id:
rs745847090
ExAC:
17:465850 C / T
gnomAD v2:
17-465850-C-T
gnomAD v4:
17-562610-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.562610C>T , CM000679.2:g.562610C>T | GRCh38 |
| NC_000017.10:g.465850C>T , CM000679.1:g.465850C>T | GRCh37 |
| NC_000017.9:g.412600C>T | NCBI36 |
| NG_034190.1:g.157247G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.1362G>A | ENSP00000291074.5:p.Val454= | |
| ENST00000437048.7:c.1449G>A MANE Select | ENSP00000401435.2:p.Val483= | |
| ENST00000571805.6:c.1449G>A | ENSP00000459312.1:p.Val483= | |
| ENST00000572334.7:c.1080G>A | ENSP00000506188.1:p.Val360= | |
| ENST00000572607.2:n.279G>A | ||
| ENST00000679361.1:c.1449G>A | ENSP00000504978.1:p.Val483= | |
| ENST00000679959.1:c.982G>A | ENSP00000506180.1:n.982G>A | |
| ENST00000680069.1:c.1449G>A | ENSP00000505145.1:p.Val483= | |
| ENST00000680114.1:c.975G>A | ENSP00000505327.1:p.Val325= | |
| ENST00000680128.1:c.1245G>A | ENSP00000506159.1:p.Val415= | |
| ENST00000680274.1:n.1011G>A | ||
| ENST00000680465.1:c.1449G>A | ENSP00000505997.1:p.Val483= | |
| ENST00000680641.1:c.*1269G>A | ENSP00000505237.1:n.*1269G>A | |
| ENST00000680702.1:n.354G>A | ||
| ENST00000680704.1:c.1080G>A | ENSP00000506453.1:p.Val360= | |
| ENST00000680872.1:c.*575G>A | ENSP00000506605.1:n.*575G>A | |
| ENST00000680944.1:n.844G>A | ||
| ENST00000680958.1:n.1356G>A | ||
| ENST00000681096.1:c.990G>A | ENSP00000506052.1:p.Val330= | |
| ENST00000681154.1:c.1362G>A | ENSP00000505866.1:p.Val454= | |
| ENST00000681160.1:c.1080G>A | ENSP00000504905.1:p.Val360= | |
| ENST00000681317.1:c.1449G>A | ENSP00000505190.1:p.Val483= | |
| ENST00000681478.1:c.*1269G>A | ENSP00000505041.1:n.*1269G>A | |
| ENST00000681510.1:c.1299G>A | ENSP00000505594.1:p.Val433= | |
| ENST00000681600.1:n.544G>A | ||
| ENST00000681661.1:c.*430G>A | ENSP00000506596.1:n.*430G>A | |
| ENST00000681830.1:c.998G>A | ENSP00000505322.1:n.998G>A | |
| ENST00000681897.1:n.701G>A | ||
| ENST00000681902.1:c.1449G>A | ENSP00000505328.1:p.Val483= | |
| ENST00000681917.1:c.918G>A | ENSP00000505944.1:p.Val306= | |
| ENST00000681943.1:c.1315G>A | ENSP00000504889.1:n.1315G>A | |
| ENST00000681946.1:c.*430G>A | ENSP00000505563.1:n.*430G>A | |
| ENST00000291074.9:c.1362G>A | ENSP00000291074.5:p.Val454= | |
| ENST00000389040.9:c.1305G>A | ENSP00000373692.5:p.Val435= | |
| ENST00000401468.7:c.618G>A | ENSP00000384294.3:p.Val206= | |
| ENST00000437048.6:c.1449G>A | ENSP00000401435.2:p.Val483= | |
| ENST00000571805.5:c.1449G>A | ENSP00000459312.1:p.Val483= | |
| ENST00000572607.1:n.77G>A | ||
| ENST00000573028.5:c.*896G>A | ENSP00000458311.1:n.*896G>A | |
| ENST00000574029.5:c.207-44971G>A | ENSP00000459159.1:n.207-44971G>A | |
| ENST00000576149.5:n.1219G>A | ||
| NM_001128159.2:c.1449G>A | NP_001121631.1:p.Val483= | |
| NM_018289.3:c.1362G>A | NP_060759.2:p.Val454= | |
| XM_011523953.1:c.855G>A | XP_011522255.1:p.Val285= | |
| XR_934061.1:n.1746G>A | ||
| XR_934062.1:n.1501G>A | ||
| NM_001366253.1:c.1449G>A | NP_001353182.1:p.Val483= | |
| NM_001366254.1:c.855G>A | NP_001353183.1:p.Val285= | |
| XM_017024817.2:c.1299G>A | XP_016880306.1:p.Val433= | |
| XM_017024818.1:c.1080G>A | XP_016880307.1:p.Val360= | |
| XR_001752553.2:n.1586G>A | ||
| XR_934061.3:n.1736G>A | ||
| XR_934062.2:n.1491G>A | ||
| NM_001128159.3:c.1449G>A MANE Select | NP_001121631.1:p.Val483= | |
| NM_001366253.2:c.1449G>A | NP_001353182.1:p.Val483= | |
| NM_001366254.2:c.855G>A | NP_001353183.1:p.Val285= | |
| NM_018289.4:c.1362G>A | NP_060759.2:p.Val454= |