Linked Data
dbSNP Id:
rs1484450519
gnomAD v2:
17-435923-A-T
gnomAD v3:
17-532683-A-T
gnomAD v4:
17-532683-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.532683A>T , CM000679.2:g.532683A>T | GRCh38 |
| NC_000017.10:g.435923A>T , CM000679.1:g.435923A>T | GRCh37 |
| NC_000017.9:g.382673A>T | NCBI36 |
| NG_034190.1:g.187174T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.*144T>A | ENSP00000291074.5:n.*144T>A | |
| ENST00000437048.7:c.2085+159T>A MANE Select | ENSP00000401435.2:n.2085+159T>A | |
| ENST00000571805.6:c.*144T>A | ENSP00000459312.1:n.*144T>A | |
| ENST00000680128.1:c.*144T>A | ENSP00000506159.1:n.*144T>A | |
| ENST00000680465.1:c.2085+159T>A | ENSP00000505997.1:n.2085+159T>A | |
| ENST00000680641.1:c.*3334+159T>A | ENSP00000505237.1:n.*3334+159T>A | |
| ENST00000680872.1:c.*1211+159T>A | ENSP00000506605.1:n.*1211+159T>A | |
| ENST00000681050.1:c.298+159T>A | ||
| ENST00000681096.1:c.*144T>A | ENSP00000506052.1:n.*144T>A | |
| ENST00000681103.1:c.315+159T>A | ENSP00000505892.1:n.315+159T>A | |
| ENST00000681160.1:c.1716+159T>A | ENSP00000504905.1:n.1716+159T>A | |
| ENST00000681317.1:c.2015+4345T>A | ENSP00000505190.1:n.2015+4345T>A | |
| ENST00000681478.1:c.*2064T>A | ENSP00000505041.1:n.*2064T>A | |
| ENST00000681510.1:c.1935+159T>A | ENSP00000505594.1:n.1935+159T>A | |
| ENST00000681600.1:n.1180+159T>A | ||
| ENST00000681661.1:c.*1066+159T>A | ENSP00000506596.1:n.*1066+159T>A | |
| ENST00000681858.1:c.315+159T>A | ENSP00000505044.1:n.315+159T>A | |
| ENST00000681917.1:c.1554+159T>A | ENSP00000505944.1:n.1554+159T>A | |
| ENST00000681943.1:c.1803+159T>A | ENSP00000504889.1:n.1803+159T>A | |
| ENST00000681946.1:c.*1066+159T>A | ENSP00000505563.1:n.*1066+159T>A | |
| ENST00000291074.9:c.*144T>A | ENSP00000291074.5:n.*144T>A | |
| ENST00000437048.6:c.2085+159T>A | ENSP00000401435.2:n.2085+159T>A | |
| ENST00000570771.1:n.152+159T>A | ||
| ENST00000573028.5:c.*1691T>A | ENSP00000458311.1:n.*1691T>A | |
| ENST00000574029.5:c.207-15044T>A | ENSP00000459159.1:n.207-15044T>A | |
| ENST00000576149.5:n.1855+159T>A | ||
| NM_001128159.2:c.2085+159T>A | NP_001121631.1:n.2085+159T>A | |
| NM_018289.3:c.*144T>A | NP_060759.2:n.*144T>A | |
| XR_934061.1:n.2382+159T>A | ||
| XR_934133.1:n.291-7706A>T | ||
| XM_017024817.2:c.1935+159T>A | XP_016880306.1:n.1935+159T>A | |
| XM_017024818.1:c.1716+159T>A | XP_016880307.1:n.1716+159T>A | |
| XR_001752553.2:n.2222+159T>A | ||
| XR_934061.3:n.2372+159T>A | ||
| NM_001128159.3:c.2085+159T>A MANE Select | NP_001121631.1:n.2085+159T>A | |
| NM_001366253.2:c.*144T>A | NP_001353182.1:n.*144T>A | |
| NM_001366254.2:c.*144T>A | NP_001353183.1:n.*144T>A | |
| NM_018289.4:c.*144T>A | NP_060759.2:n.*144T>A |