gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4473941 (EAS)
Genomes Max Group AF
0.4473941 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31496962G>A , CM000668.2:g.31496962G>A | GRCh38 |
| NC_000006.11:g.31464739G>A , CM000668.1:g.31464739G>A | GRCh37 |
| NC_000006.10:g.31572718G>A | NCBI36 |
| NG_021405.1:g.3885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538442.5:c.-27+1967G>A | ENSP00000442345.1:n.-27+1967G>A | |
| NM_001289160.1:c.-27+1967G>A | NP_001276089.1:n.-27+1967G>A | |
| XM_011514630.1:c.-27+1986G>A | XP_011512932.1:n.-27+1986G>A | |
| XM_011514631.1:c.-27+62G>A | XP_011512933.1:n.-27+62G>A | |
| NM_001289160.2:c.-27+1967G>A | NP_001276089.1:n.-27+1967G>A |