gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18144027 (AFR)
Genomes Max Group AF
0.18144027 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2547017A>C , CM000681.2:g.2547017A>C | GRCh38 |
| NC_000019.9:g.2547015A>C , CM000681.1:g.2547015A>C | GRCh37 |
| NC_000019.8:g.2498015A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382159.8:c.-38+8132T>G MANE Select | ENSP00000371594.2:n.-38+8132T>G | |
| ENST00000382159.7:c.-38+8132T>G | ENSP00000371594.2:n.-38+8132T>G | |
| ENST00000587867.1:c.-38+8132T>G | ENSP00000468650.1:n.-38+8132T>G | |
| NM_052847.2:c.-38+8132T>G | NP_443079.1:n.-38+8132T>G | |
| XM_017026606.1:c.-38+8132T>G | XP_016882095.1:n.-38+8132T>G | |
| NM_052847.3:c.-38+8132T>G MANE Select | NP_443079.1:n.-38+8132T>G |