gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.572682C>T , CM000679.2:g.572682C>T | GRCh38 |
| NC_000017.10:g.475922C>T , CM000679.1:g.475922C>T | GRCh37 |
| NC_000017.9:g.422672C>T | NCBI36 |
| NG_034190.1:g.147175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.1227-9937G>A | ENSP00000291074.5:n.1227-9937G>A | |
| ENST00000437048.7:c.1314-9937G>A MANE Select | ENSP00000401435.2:n.1314-9937G>A | |
| ENST00000571805.6:c.1314-9937G>A | ENSP00000459312.1:n.1314-9937G>A | |
| ENST00000572334.7:c.945-9937G>A | ENSP00000506188.1:n.945-9937G>A | |
| ENST00000572607.2:n.143+9847G>A | ||
| ENST00000679361.1:c.1314-9937G>A | ENSP00000504978.1:n.1314-9937G>A | |
| ENST00000679959.1:c.847-9937G>A | ENSP00000506180.1:n.847-9937G>A | |
| ENST00000680069.1:c.1314-9937G>A | ENSP00000505145.1:n.1314-9937G>A | |
| ENST00000680114.1:c.840-9937G>A | ENSP00000505327.1:n.840-9937G>A | |
| ENST00000680128.1:c.1110-9937G>A | ENSP00000506159.1:n.1110-9937G>A | |
| ENST00000680274.1:n.876-9937G>A | ||
| ENST00000680465.1:c.1314-9937G>A | ENSP00000505997.1:n.1314-9937G>A | |
| ENST00000680641.1:c.*1134-9937G>A | ENSP00000505237.1:n.*1134-9937G>A | |
| ENST00000680704.1:c.945-9937G>A | ENSP00000506453.1:n.945-9937G>A | |
| ENST00000680872.1:c.*440-9937G>A | ENSP00000506605.1:n.*440-9937G>A | |
| ENST00000680944.1:n.709-9937G>A | ||
| ENST00000680958.1:n.1221-9937G>A | ||
| ENST00000681096.1:c.855-9937G>A | ENSP00000506052.1:n.855-9937G>A | |
| ENST00000681154.1:c.1227-9937G>A | ENSP00000505866.1:n.1227-9937G>A | |
| ENST00000681160.1:c.945-9937G>A | ENSP00000504905.1:n.945-9937G>A | |
| ENST00000681229.1:c.*708-9937G>A | ENSP00000505837.1:n.*708-9937G>A | |
| ENST00000681317.1:c.1314-9937G>A | ENSP00000505190.1:n.1314-9937G>A | |
| ENST00000681478.1:c.*1134-9937G>A | ENSP00000505041.1:n.*1134-9937G>A | |
| ENST00000681510.1:c.1164-9937G>A | ENSP00000505594.1:n.1164-9937G>A | |
| ENST00000681600.1:n.409-9937G>A | ||
| ENST00000681661.1:c.*295-9937G>A | ENSP00000506596.1:n.*295-9937G>A | |
| ENST00000681830.1:c.863-9937G>A | ENSP00000505322.1:n.863-9937G>A | |
| ENST00000681897.1:n.566-9937G>A | ||
| ENST00000681902.1:c.1314-9937G>A | ENSP00000505328.1:n.1314-9937G>A | |
| ENST00000681917.1:c.783-9937G>A | ENSP00000505944.1:n.783-9937G>A | |
| ENST00000681943.1:c.1180-9937G>A | ENSP00000504889.1:n.1180-9937G>A | |
| ENST00000681946.1:c.*295-9937G>A | ENSP00000505563.1:n.*295-9937G>A | |
| ENST00000291074.9:c.1227-9937G>A | ENSP00000291074.5:n.1227-9937G>A | |
| ENST00000389040.9:c.1170-9937G>A | ENSP00000373692.5:n.1170-9937G>A | |
| ENST00000401468.7:c.483-9937G>A | ENSP00000384294.3:n.483-9937G>A | |
| ENST00000437048.6:c.1314-9937G>A | ENSP00000401435.2:n.1314-9937G>A | |
| ENST00000571805.5:c.1314-9937G>A | ENSP00000459312.1:n.1314-9937G>A | |
| ENST00000573028.5:c.*761-9937G>A | ENSP00000458311.1:n.*761-9937G>A | |
| ENST00000574029.5:c.207-55043G>A | ENSP00000459159.1:n.207-55043G>A | |
| ENST00000576149.5:n.1084-9937G>A | ||
| NM_001128159.2:c.1314-9937G>A | NP_001121631.1:n.1314-9937G>A | |
| NM_018289.3:c.1227-9937G>A | NP_060759.2:n.1227-9937G>A | |
| XM_011523953.1:c.720-9937G>A | XP_011522255.1:n.720-9937G>A | |
| XR_934061.1:n.1611-9937G>A | ||
| XR_934062.1:n.1366-9937G>A | ||
| NM_001366253.1:c.1314-9937G>A | NP_001353182.1:n.1314-9937G>A | |
| NM_001366254.1:c.720-9937G>A | NP_001353183.1:n.720-9937G>A | |
| XM_017024817.2:c.1164-9937G>A | XP_016880306.1:n.1164-9937G>A | |
| XM_017024818.1:c.945-9937G>A | XP_016880307.1:n.945-9937G>A | |
| XR_001752553.2:n.1451-9937G>A | ||
| XR_934061.3:n.1601-9937G>A | ||
| XR_934062.2:n.1356-9937G>A | ||
| NM_001128159.3:c.1314-9937G>A MANE Select | NP_001121631.1:n.1314-9937G>A | |
| NM_001366253.2:c.1314-9937G>A | NP_001353182.1:n.1314-9937G>A | |
| NM_001366254.2:c.720-9937G>A | NP_001353183.1:n.720-9937G>A | |
| NM_018289.4:c.1227-9937G>A | NP_060759.2:n.1227-9937G>A |