gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73879122 (AFR)
Genomes Max Group AF
0.73879122 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103643921G>A , CM000666.2:g.103643921G>A | GRCh38 |
| NC_000004.11:g.104565078G>A , CM000666.1:g.104565078G>A | GRCh37 |
| NC_000004.10:g.104784527G>A | NCBI36 |
| NG_023344.1:g.80896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304883.3:c.888+12273C>T MANE Select | ENSP00000303325.2:n.888+12273C>T | |
| ENST00000304883.2:c.888+12273C>T | ENSP00000303325.2:n.888+12273C>T | |
| NM_001059.2:c.888+12273C>T | NP_001050.1:n.888+12273C>T | |
| NM_001059.3:c.888+12273C>T MANE Select | NP_001050.1:n.888+12273C>T |