gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16557989 (EAS)
Genomes Max Group AF
0.16557989 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.24039984A>G , CM000681.2:g.24039984A>G | GRCh38 |
| NC_000019.9:g.24222786A>G , CM000681.1:g.24222786A>G | GRCh37 |
| NC_000019.8:g.24014626A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342944.10:c.-98-6200A>G | ENSP00000445527.1:n.-98-6200A>G | |
| ENST00000613065.4:c.-189-6200A>G | ENSP00000482703.1:n.-189-6200A>G | |
| NM_001278661.1:c.-189-6200A>G | NP_001265590.1:n.-189-6200A>G | |
| NM_001278663.1:c.-98-6200A>G | NP_001265592.1:n.-98-6200A>G | |
| NM_001278677.1:c.-261-6200A>G | NP_001265606.1:n.-261-6200A>G | |
| XM_011528443.1:c.-333-6200A>G | XP_011526745.1:n.-333-6200A>G | |
| XM_011528444.1:c.-411-6200A>G | XP_011526746.1:n.-411-6200A>G | |
| XM_011528445.1:c.-613-2459A>G | XP_011526747.1:n.-613-2459A>G | |
| XM_011528446.1:c.-439-6200A>G | XP_011526748.1:n.-439-6200A>G | |
| XM_011528448.1:c.-242-6200A>G | XP_011526750.1:n.-242-6200A>G | |
| XM_011528444.2:c.-411-6200A>G | XP_011526746.1:n.-411-6200A>G | |
| XM_011528448.3:c.-242-6200A>G | XP_011526750.1:n.-242-6200A>G | |
| XM_017027515.1:c.-691-2459A>G | XP_016883004.1:n.-691-2459A>G | |
| XM_017027518.1:c.-158-6200A>G | XP_016883007.1:n.-158-6200A>G | |
| XM_017027519.1:c.-438-2459A>G | XP_016883008.1:n.-438-2459A>G | |
| NM_001278663.2:c.-98-6200A>G | NP_001265592.1:n.-98-6200A>G | |
| NM_001278677.2:c.-261-6200A>G | NP_001265606.1:n.-261-6200A>G | |
| NM_001278661.2:c.-189-6200A>G | NP_001265590.1:n.-189-6200A>G |