gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93225687 (AFR)
Genomes Max Group AF
0.93225687 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1084399G>A , CM000666.2:g.1084399G>A | GRCh38 |
| NC_000004.11:g.1078187G>A , CM000666.1:g.1078187G>A | GRCh37 |
| NC_000004.10:g.1068187G>A | NCBI36 |
| NG_027812.1:g.34166C>T | |
| NG_027812.2:g.34396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698262.1:c.362+1497C>T | ENSP00000513634.1:n.362+1497C>T | |
| ENST00000433731.7:c.362+1497C>T MANE Select | ENSP00000389709.2:n.362+1497C>T | |
| ENST00000382968.9:c.362+1497C>T | ENSP00000372428.5:n.362+1497C>T | |
| ENST00000433731.6:c.362+1497C>T | ENSP00000389709.2:n.362+1497C>T | |
| ENST00000506730.5:c.*141+1497C>T | ENSP00000425843.1:n.*141+1497C>T | |
| ENST00000508428.5:c.*141+1497C>T | ENSP00000423030.1:n.*141+1497C>T | |
| ENST00000510715.5:c.*226+1497C>T | ENSP00000423560.1:n.*226+1497C>T | |
| ENST00000511620.5:c.362+1497C>T | ENSP00000426115.1:n.362+1497C>T | |
| NM_001131034.3:c.362+1497C>T | NP_001124506.1:n.362+1497C>T | |
| NM_194439.4:c.362+1497C>T | NP_919420.1:n.362+1497C>T | |
| XM_005272274.2:c.362+1497C>T | XP_005272331.1:n.362+1497C>T | |
| XM_011513438.1:c.230+1497C>T | XP_011511740.1:n.230+1497C>T | |
| XM_011513439.1:c.230+1497C>T | XP_011511741.1:n.230+1497C>T | |
| XM_011513440.1:c.362+1497C>T | XP_011511742.1:n.362+1497C>T | |
| XM_011513441.1:c.362+1497C>T | XP_011511743.1:n.362+1497C>T | |
| XM_011513442.1:c.164+1497C>T | XP_011511744.1:n.164+1497C>T | |
| XM_011513443.1:c.164+1497C>T | XP_011511745.1:n.164+1497C>T | |
| XM_011513444.1:c.362+1497C>T | XP_011511746.1:n.362+1497C>T | |
| XM_011513445.1:c.247-10737C>T | XP_011511747.1:n.247-10737C>T | |
| XM_011513446.1:c.247-10737C>T | XP_011511748.1:n.247-10737C>T | |
| XR_246609.2:n.463+1497C>T | ||
| XR_924933.1:n.460+1497C>T | ||
| XR_924936.1:n.460+1497C>T | ||
| XR_924937.1:n.460+1497C>T | ||
| NM_001366918.1:c.362+1497C>T | NP_001353847.1:n.362+1497C>T | |
| NM_001366919.1:c.362+1497C>T | NP_001353848.1:n.362+1497C>T | |
| NR_159497.1:n.462+1497C>T | ||
| NR_159498.1:n.462+1497C>T | ||
| NR_159499.1:n.285-10737C>T | ||
| NR_159500.1:n.497-10737C>T | ||
| NR_159501.1:n.674+1497C>T | ||
| NR_159502.1:n.462+1497C>T | ||
| NR_159503.1:n.400+1497C>T | ||
| NR_159504.1:n.400+1497C>T | ||
| NR_159505.1:n.400+1497C>T | ||
| XM_011513445.2:c.247-10737C>T | XP_011511747.1:n.247-10737C>T | |
| XM_017008039.1:c.230+1497C>T | XP_016863528.1:n.230+1497C>T | |
| XM_017008040.1:c.230+1497C>T | XP_016863529.1:n.230+1497C>T | |
| XR_001741208.1:n.460+1497C>T | ||
| XR_002959724.1:n.460+1497C>T | ||
| NM_001131034.4:c.362+1497C>T MANE Select | NP_001124506.1:n.362+1497C>T | |
| NM_194439.5:c.362+1497C>T | NP_919420.1:n.362+1497C>T |