gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006228 (AFR)
Genomes Max Group AF
0.00004727 (AFR)
Exomes Max Group AF
0.00004086 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939545C>T , CM000673.2:g.68939545C>T | GRCh38 |
| NC_000011.9:g.68707013C>T , CM000673.1:g.68707013C>T | GRCh37 |
| NC_000011.8:g.68463589C>T | NCBI36 |
| NG_007976.1:g.40695C>T , LRG_250:g.40695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2796C>T MANE Select | ENSP00000255078.4:p.Cys932= | |
| ENST00000675118.1:c.2284C>T | ||
| ENST00000675615.1:c.2623C>T | ENSP00000502413.1:p.Arg875Trp | |
| ENST00000675648.1:n.2358C>T | ||
| ENST00000675916.1:c.1227C>T | ||
| ENST00000676173.1:n.3541C>T | ||
| ENST00000255078.7:c.2796C>T | ENSP00000255078.3:p.Cys932= | |
| ENST00000543739.5:n.1789C>T | ||
| ENST00000544521.1:n.627C>T | ||
| NM_002180.2:c.2796C>T , LRG_250t1:c.2796C>T | NP_002171.2:p.Cys932= | |
| XM_005273974.2:c.1785C>T | XP_005274031.1:p.Cys595= | |
| XM_005273975.2:c.1668C>T | XP_005274032.1:p.Cys556= | |
| XM_011544994.1:c.1563C>T | XP_011543296.1:p.Cys521= | |
| XR_949903.1:n.3085C>T | ||
| XM_005273975.3:c.1668C>T | XP_005274032.1:p.Cys556= | |
| XM_017017669.2:c.1785C>T | XP_016873158.1:p.Cys595= | |
| XM_017017670.2:c.1785C>T | XP_016873159.1:p.Cys595= | |
| XR_949903.3:n.3081C>T | ||
| NM_002180.3:c.2796C>T MANE Select | NP_002171.2:p.Cys932= |