gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1791749 (AFR)
Genomes Max Group AF
0.1791749 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.57933599G>A , CM000679.2:g.57933599G>A | GRCh38 |
| NC_000017.10:g.56010960G>A , CM000679.1:g.56010960G>A | GRCh37 |
| NC_000017.9:g.53365959G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577830.6:c.-316+21626C>T MANE Select | ENSP00000462717.1:n.-316+21626C>T | |
| ENST00000577830.5:c.-316+21626C>T | ENSP00000462717.1:n.-316+21626C>T | |
| ENST00000577840.5:c.-76+21626C>T | ENSP00000463666.1:n.-76+21626C>T | |
| NM_001271875.1:c.-316+21626C>T | NP_001258804.1:n.-316+21626C>T | |
| XM_006721900.2:c.-316+12573C>T | XP_006721963.1:n.-316+12573C>T | |
| XM_006721901.2:c.-262+21626C>T | XP_006721964.1:n.-262+21626C>T | |
| XR_934459.1:n.71+21626C>T | ||
| XR_934460.1:n.70+21626C>T | ||
| XM_017024640.2:c.-316+21626C>T | XP_016880129.1:n.-316+21626C>T | |
| XM_017024641.2:c.-611+21626C>T | XP_016880130.1:n.-611+21626C>T | |
| XR_001752509.2:n.62+21626C>T | ||
| XR_934459.3:n.62+21626C>T | ||
| XR_934460.3:n.62+21626C>T | ||
| NM_001271875.2:c.-316+21626C>T MANE Select | NP_001258804.1:n.-316+21626C>T |