gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22875721 (NFE)
Genomes Max Group AF
0.22875721 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37368522A>G , CM000683.2:g.37368522A>G | GRCh38 |
| NC_000021.8:g.38740824A>G , CM000683.1:g.38740824A>G | GRCh37 |
| NC_000021.7:g.37662694A>G | NCBI36 |
| NG_009366.1:g.5966A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338785.8:c.-178+894A>G | ENSP00000342690.3:n.-178+894A>G | |
| ENST00000426672.6:c.-77+390A>G | ENSP00000412269.2:n.-77+390A>G | |
| ENST00000643551.1:c.-77+390A>G | ENSP00000494698.1:n.-77+390A>G | |
| ENST00000643624.1:c.-153+894A>G | ENSP00000493627.1:n.-153+894A>G | |
| ENST00000644942.1:c.-77+894A>G | ENSP00000494544.1:n.-77+894A>G | |
| ENST00000646523.1:c.-77+2688A>G | ENSP00000495632.1:n.-77+2688A>G | |
| ENST00000647188.2:c.-77+894A>G MANE Select | ENSP00000494572.1:n.-77+894A>G | |
| ENST00000647425.1:c.-77+2337A>G | ENSP00000496748.1:n.-77+2337A>G | |
| ENST00000647504.1:c.-78+894A>G | ENSP00000495571.1:n.-78+894A>G | |
| ENST00000338785.7:c.-178+894A>G | ENSP00000342690.3:n.-178+894A>G | |
| ENST00000426672.5:c.-77+894A>G | ENSP00000412269.1:n.-77+894A>G | |
| ENST00000455097.5:c.-153+894A>G | ENSP00000398483.1:n.-153+894A>G | |
| ENST00000462274.1:n.695+894A>G | ||
| ENST00000608928.1:n.396+2337A>G | ||
| NM_101395.2:c.-178+894A>G | NP_567824.1:n.-178+894A>G | |
| XM_006723977.2:c.-77+2337A>G | XP_006724040.1:n.-77+2337A>G | |
| XM_006723978.2:c.-77+894A>G | XP_006724041.1:n.-77+894A>G | |
| XM_006723979.2:c.-77+894A>G | XP_006724042.1:n.-77+894A>G | |
| XM_011529485.1:c.-78+894A>G | XP_011527787.1:n.-78+894A>G | |
| NM_001347721.1:c.-77+894A>G | NP_001334650.1:n.-77+894A>G | |
| NM_001347722.1:c.-77+2337A>G | NP_001334651.1:n.-77+2337A>G | |
| NM_001347723.1:c.-78+894A>G | NP_001334652.1:n.-78+894A>G | |
| NM_001396.4:c.-77+2688A>G | NP_001387.2:n.-77+2688A>G | |
| XM_006723977.3:c.-77+2337A>G | XP_006724040.1:n.-77+2337A>G | |
| XM_006723978.3:c.-77+894A>G | XP_006724041.1:n.-77+894A>G | |
| NM_001347721.2:c.-77+894A>G MANE Select | NP_001334650.1:n.-77+894A>G | |
| NM_001347722.2:c.-77+2337A>G | NP_001334651.1:n.-77+2337A>G | |
| NM_001347723.2:c.-78+894A>G | NP_001334652.1:n.-78+894A>G | |
| NM_001396.5:c.-77+2688A>G | NP_001387.2:n.-77+2688A>G |