gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00087344 (NFE)
Genomes Max Group AF
0.00061147 (NFE)
Exomes Max Group AF
0.00088104 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2525576C>T , CM000669.2:g.2525576C>T | GRCh38 |
| NC_000007.13:g.2565210C>T , CM000669.1:g.2565210C>T | GRCh37 |
| NC_000007.12:g.2531736C>T | NCBI36 |
| NG_008109.2:g.18048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222725.10:c.735+9C>T MANE Select | ENSP00000222725.5:n.735+9C>T | |
| ENST00000222725.9:c.735+9C>T | ENSP00000222725.5:n.735+9C>T | |
| ENST00000338732.7:c.348+9C>T | ENSP00000343095.3:n.348+9C>T | |
| ENST00000359574.7:c.735+9C>T | ENSP00000352579.3:n.735+9C>T | |
| ENST00000402045.5:c.348+9C>T | ENSP00000384786.1:n.348+9C>T | |
| ENST00000402506.5:c.522+9C>T | ENSP00000385764.1:n.522+9C>T | |
| ENST00000493850.1:n.516+9C>T | ||
| ENST00000614382.1:c.342+9C>T | ENSP00000483986.1:n.342+9C>T | |
| NM_001040167.1:c.735+9C>T | NP_001035257.1:n.735+9C>T | |
| NM_001040168.1:c.735+9C>T | NP_001035258.1:n.735+9C>T | |
| NM_001166355.1:c.522+9C>T | NP_001159827.1:n.522+9C>T | |
| NM_002304.2:c.348+9C>T | NP_002295.1:n.348+9C>T | |
| NM_001040167.2:c.735+9C>T MANE Select | NP_001035257.1:n.735+9C>T | |
| NM_001040168.2:c.735+9C>T | NP_001035258.1:n.735+9C>T | |
| NM_001166355.2:c.522+9C>T | NP_001159827.1:n.522+9C>T | |
| NM_002304.3:c.348+9C>T | NP_002295.1:n.348+9C>T |