gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6502457 (AFR)
Genomes Max Group AF
0.6502457 (AFR)
Exomes Max Group AF
0.10221052 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98953019C>T , CM000677.2:g.98953019C>T | GRCh38 |
| NC_000015.9:g.99496248C>T , CM000677.1:g.99496248C>T | GRCh37 |
| NC_000015.8:g.97313771C>T | NCBI36 |
| NG_009492.1:g.308488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.3720-4042C>T | ENSP00000496919.1:n.3720-4042C>T | |
| ENST00000650285.1:c.3723-4042C>T MANE Select | ENSP00000497069.1:n.3723-4042C>T | |
| ENST00000268035.10:c.3723-4042C>T | ENSP00000268035.6:n.3723-4042C>T | |
| ENST00000558751.1:n.225C>T | ||
| ENST00000558762.5:c.3720-4042C>T | ENSP00000453007.1:n.3720-4042C>T | |
| NM_000875.4:c.3723-4042C>T | NP_000866.1:n.3723-4042C>T | |
| NM_001291858.1:c.3720-4042C>T | NP_001278787.1:n.3720-4042C>T | |
| XM_011521513.1:c.3786-4042C>T | XP_011519815.1:n.3786-4042C>T | |
| XM_011521514.1:c.3786-4042C>T | XP_011519816.1:n.3786-4042C>T | |
| XM_011521515.1:c.3783-4042C>T | XP_011519817.1:n.3783-4042C>T | |
| XM_011521516.1:c.2814-4042C>T | XP_011519818.1:n.2814-4042C>T | |
| XM_011521517.1:c.2388-4042C>T | XP_011519819.1:n.2388-4042C>T | |
| XM_011521516.2:c.2814-4042C>T | XP_011519818.1:n.2814-4042C>T | |
| XM_011521517.2:c.2388-4042C>T | XP_011519819.1:n.2388-4042C>T | |
| XM_017022136.1:c.3798-4042C>T | XP_016877625.1:n.3798-4042C>T | |
| XM_017022137.1:c.3798-4042C>T | XP_016877626.1:n.3798-4042C>T | |
| XM_017022138.1:c.3795-4042C>T | XP_016877627.1:n.3795-4042C>T | |
| XM_017022139.1:c.3360-4042C>T | XP_016877628.1:n.3360-4042C>T | |
| XM_024449913.1:c.2814-4042C>T | XP_024305681.1:n.2814-4042C>T | |
| NM_000875.5:c.3723-4042C>T MANE Select | NP_000866.1:n.3723-4042C>T | |
| NM_001291858.2:c.3720-4042C>T | NP_001278787.1:n.3720-4042C>T |