gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84984055 (AFR)
Genomes Max Group AF
0.84448093 (AFR)
Exomes Max Group AF
0.85037428 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43741895C>T , CM000685.2:g.43741895C>T | GRCh38 |
| NC_000023.10:g.43601142C>T , CM000685.1:g.43601142C>T | GRCh37 |
| NC_000023.9:g.43486086C>T | NCBI36 |
| NG_008957.2:g.90735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.766-55C>T | ENSP00000440846.1:n.766-55C>T | |
| ENST00000686683.1:c.475-55C>T | ENSP00000509063.1:n.475-55C>T | |
| ENST00000686980.1:n.5697-55C>T | ||
| ENST00000688006.1:c.766-55C>T | ENSP00000510311.1:n.766-55C>T | |
| ENST00000688859.1:n.721-55C>T | ||
| ENST00000689087.1:c.766-55C>T | ENSP00000508997.1:n.766-55C>T | |
| ENST00000693128.1:c.1060-55C>T | ENSP00000508493.1:n.1060-55C>T | |
| ENST00000338702.4:c.1165-55C>T MANE Select | ENSP00000340684.3:n.1165-55C>T | |
| ENST00000338702.3:c.1165-55C>T | ENSP00000340684.3:n.1165-55C>T | |
| ENST00000542639.5:c.766-55C>T | ENSP00000440846.1:n.766-55C>T | |
| NM_000240.3:c.1165-55C>T | NP_000231.1:n.1165-55C>T | |
| NM_001270458.1:c.766-55C>T | NP_001257387.1:n.766-55C>T | |
| NM_000240.4:c.1165-55C>T MANE Select | NP_000231.1:n.1165-55C>T | |
| NM_001270458.2:c.766-55C>T | NP_001257387.1:n.766-55C>T |