gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55891678 (AFR)
Genomes Max Group AF
0.55891678 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.74121441C>A , CM000680.2:g.74121441C>A | GRCh38 |
| NC_000018.9:g.71788676C>A , CM000680.1:g.71788676C>A | GRCh37 |
| NC_000018.8:g.69939656C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419743.7:c.1138+1927G>T MANE Select | ENSP00000393154.2:n.1138+1927G>T | |
| ENST00000648529.1:c.*1074+1927G>T | ENSP00000496898.1:n.*1074+1927G>T | |
| ENST00000419743.6:c.1138+1927G>T | ENSP00000393154.2:n.1138+1927G>T | |
| ENST00000578399.5:c.424+1927G>T | ||
| ENST00000580088.1:c.143+1927G>T | ||
| ENST00000581214.5:c.1102+1927G>T | ||
| ENST00000583443.5:c.*1147+1927G>T | ENSP00000464177.1:n.*1147+1927G>T | |
| NM_001142958.1:c.1138+1927G>T | NP_001136430.1:n.1138+1927G>T | |
| NM_152676.2:c.910+1927G>T | NP_689889.1:n.910+1927G>T | |
| XM_011525854.1:c.1075+1927G>T | XP_011524156.1:n.1075+1927G>T | |
| XM_011525855.1:c.1075+1927G>T | XP_011524157.1:n.1075+1927G>T | |
| XM_011525856.1:c.928+1927G>T | XP_011524158.1:n.928+1927G>T | |
| XM_011525857.1:c.910+1927G>T | XP_011524159.1:n.910+1927G>T | |
| XM_011525860.1:c.785+7964G>T | XP_011524162.1:n.785+7964G>T | |
| XM_017025603.2:c.910+1927G>T | XP_016881092.1:n.910+1927G>T | |
| XM_017025604.2:c.910+1927G>T | XP_016881093.1:n.910+1927G>T | |
| XM_024451099.1:c.*1397G>T | XP_024306867.1:n.*1397G>T | |
| NM_001142958.2:c.1138+1927G>T MANE Select | NP_001136430.1:n.1138+1927G>T | |
| NM_152676.3:c.910+1927G>T | NP_689889.1:n.910+1927G>T |