gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10256386 (AFR)
Genomes Max Group AF
0.10256386 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7844997A>G , CM000681.2:g.7844997A>G | GRCh38 |
| NC_000019.9:g.7909883A>G , CM000681.1:g.7909883A>G | GRCh37 |
| NC_000019.8:g.7815883A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538904.7:c.-47-1499A>G MANE Select | ENSP00000445905.1:n.-47-1499A>G | |
| ENST00000270530.8:c.-47-1499A>G | ENSP00000270530.3:n.-47-1499A>G | |
| NM_145245.4:c.-47-1499A>G | NP_660288.1:n.-47-1499A>G | |
| XM_005272458.3:c.-47-1499A>G | XP_005272515.1:n.-47-1499A>G | |
| XM_005272458.5:c.-47-1499A>G | XP_005272515.1:n.-47-1499A>G | |
| XM_017026239.1:c.-43-1503A>G | XP_016881728.1:n.-43-1503A>G | |
| NM_001159944.3:c.-47-1499A>G MANE Select | NP_001153416.1:n.-47-1499A>G | |
| NM_145245.5:c.-47-1499A>G | NP_660288.1:n.-47-1499A>G |