gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43529225 (AFR)
Genomes Max Group AF
0.43529225 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157181989G>A , CM000667.2:g.157181989G>A | GRCh38 |
| NC_000005.9:g.156609000G>A , CM000667.1:g.156609000G>A | GRCh37 |
| NC_000005.8:g.156541578G>A | NCBI36 |
| NG_016276.1:g.6094G>A , LRG_189:g.6094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.138+874G>A | ENSP00000513001.1:n.138+874G>A | |
| ENST00000422843.8:c.138+874G>A MANE Select | ENSP00000398655.4:n.138+874G>A | |
| ENST00000422843.7:c.138+874G>A | ENSP00000398655.3:n.138+874G>A | |
| ENST00000517779.1:c.138+874G>A | ENSP00000431054.1:n.138+874G>A | |
| ENST00000519402.5:n.273+874G>A | ||
| ENST00000520555.5:n.276+874G>A | ||
| ENST00000521769.5:c.-238+15843G>A | ENSP00000430327.1:n.-238+15843G>A | |
| ENST00000522616.1:n.279+874G>A | ||
| NM_005546.3:c.138+874G>A , LRG_189t1:c.138+874G>A | NP_005537.3:n.138+874G>A | |
| NM_005546.4:c.138+874G>A MANE Select | NP_005537.3:n.138+874G>A |