gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10721487 (AFR)
Genomes Max Group AF
0.10721487 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54656200A>G , CM000676.2:g.54656200A>G | GRCh38 |
| NC_000014.8:g.55122918A>G , CM000676.1:g.55122918A>G | GRCh37 |
| NC_000014.7:g.54192668A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554335.6:c.197-45862A>G MANE Select | ENSP00000452535.1:n.197-45862A>G | |
| ENST00000251091.9:c.197-45862A>G | ENSP00000251091.5:n.197-45862A>G | |
| ENST00000392067.7:c.197-45862A>G | ENSP00000375919.3:n.197-45862A>G | |
| ENST00000554335.5:c.197-45862A>G | ENSP00000452535.1:n.197-45862A>G | |
| ENST00000555091.1:n.158+3360A>G | ||
| ENST00000555112.1:n.482-45862A>G | ||
| ENST00000631086.2:c.-767-45862A>G | ENSP00000486821.1:n.-767-45862A>G | |
| NM_001161576.2:c.197-45862A>G | NP_001155048.2:n.197-45862A>G | |
| NM_015589.5:c.197-45862A>G | NP_056404.4:n.197-45862A>G | |
| XM_024449514.1:c.197-45862A>G | XP_024305282.1:n.197-45862A>G | |
| XM_024449515.1:c.197-45862A>G | XP_024305283.1:n.197-45862A>G | |
| XM_024449516.1:c.197-45862A>G | XP_024305284.1:n.197-45862A>G | |
| XM_024449517.1:c.197-45862A>G | XP_024305285.1:n.197-45862A>G | |
| NM_015589.6:c.197-45862A>G MANE Select | NP_056404.4:n.197-45862A>G |