gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2572263 (AFR)
Genomes Max Group AF
0.2572263 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123338164G>A , CM000674.2:g.123338164G>A | GRCh38 |
| NC_000012.11:g.123822711G>A , CM000674.1:g.123822711G>A | GRCh37 |
| NC_000012.10:g.122388664G>A | NCBI36 |
| NG_052874.1:g.32046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602398.3:c.652-1673C>T MANE Select | ENSP00000473665.1:n.652-1673C>T | |
| ENST00000267176.8:c.649-1673C>T | ENSP00000267176.4:n.649-1673C>T | |
| ENST00000420886.6:c.652-1673C>T | ENSP00000387361.2:n.652-1673C>T | |
| ENST00000602398.2:c.652-1673C>T | ENSP00000473665.1:n.652-1673C>T | |
| NM_001167856.1:c.652-1673C>T | NP_001161328.1:n.652-1673C>T | |
| NM_018183.3:c.649-1673C>T | NP_060653.3:n.649-1673C>T | |
| XM_005253572.2:c.652-1673C>T | XP_005253629.1:n.652-1673C>T | |
| XM_005253573.3:c.652-1673C>T | XP_005253630.1:n.652-1673C>T | |
| XM_005253575.2:c.649-1673C>T | XP_005253632.1:n.649-1673C>T | |
| XM_005253576.2:c.649-1673C>T | XP_005253633.1:n.649-1673C>T | |
| XM_006719473.2:c.652-1673C>T | XP_006719536.1:n.652-1673C>T | |
| XM_006719474.2:c.652-1673C>T | XP_006719537.1:n.652-1673C>T | |
| XM_011538533.1:c.649-1673C>T | XP_011536835.1:n.649-1673C>T | |
| XM_011538534.1:c.547-1673C>T | XP_011536836.1:n.547-1673C>T | |
| XM_011538535.1:c.544-1673C>T | XP_011536837.1:n.544-1673C>T | |
| NM_001167856.2:c.652-1673C>T | NP_001161328.1:n.652-1673C>T | |
| NM_018183.4:c.649-1673C>T | NP_060653.3:n.649-1673C>T | |
| NM_001167856.3:c.652-1673C>T MANE Select | NP_001161328.1:n.652-1673C>T | |
| NM_018183.5:c.649-1673C>T | NP_060653.3:n.649-1673C>T |