gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069221 (EAS)
Genomes Max Group AF
0.00001974 (NFE)
Exomes Max Group AF
0.00075986 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1772081C>T , CM000679.2:g.1772081C>T | GRCh38 |
| NC_000017.10:g.1675375C>T , CM000679.1:g.1675375C>T | GRCh37 |
| NC_000017.9:g.1622125C>T | NCBI36 |
| NG_028180.1:g.15117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.643+6C>T MANE Select | ENSP00000254722.4:n.643+6C>T | |
| ENST00000254722.8:c.643+6C>T | ENSP00000254722.4:n.643+6C>T | |
| ENST00000572048.1:c.82+6C>T | ENSP00000458484.1:n.82+6C>T | |
| ENST00000573763.1:c.42+6C>T | ENSP00000461405.1:n.42+6C>T | |
| ENST00000576406.5:c.82+6C>T | ENSP00000461214.1:n.82+6C>T | |
| NM_002615.5:c.643+6C>T | NP_002606.3:n.643+6C>T | |
| NM_001329903.1:c.643+6C>T | NP_001316832.1:n.643+6C>T | |
| NM_001329904.1:c.82+6C>T | NP_001316833.1:n.82+6C>T | |
| NM_001329905.1:c.82+6C>T | NP_001316834.1:n.82+6C>T | |
| NM_002615.6:c.643+6C>T | NP_002606.3:n.643+6C>T | |
| NM_002615.7:c.643+6C>T MANE Select | NP_002606.3:n.643+6C>T | |
| NM_001329903.2:c.643+6C>T | NP_001316832.1:n.643+6C>T | |
| NM_001329904.2:c.82+6C>T | NP_001316833.1:n.82+6C>T | |
| NM_001329905.2:c.82+6C>T | NP_001316834.1:n.82+6C>T |