gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25597978 (AMR)
Genomes Max Group AF
0.25597978 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62917945G>A , CM000673.2:g.62917945G>A | GRCh38 |
| NC_000011.9:g.62685417G>A , CM000673.1:g.62685417G>A | GRCh37 |
| NC_000011.8:g.62441993G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306960.4:c.-79+3273C>T MANE Select | ENSP00000306490.3:n.-79+3273C>T | |
| ENST00000306960.3:c.-79+3273C>T | ENSP00000306490.3:n.-79+3273C>T | |
| ENST00000543973.1:c.-79+2728C>T | ENSP00000441188.1:n.-79+2728C>T | |
| NM_000738.2:c.-79+3273C>T | NP_000729.2:n.-79+3273C>T | |
| XM_011544742.1:c.-79+3893C>T | XP_011543044.1:n.-79+3893C>T | |
| XM_011544742.2:c.-79+3893C>T | XP_011543044.1:n.-79+3893C>T | |
| XR_002957251.1:n.413G>A | ||
| NM_000738.3:c.-79+3273C>T MANE Select | NP_000729.2:n.-79+3273C>T |