gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128336042G>A , CM000667.2:g.128336042G>A | GRCh38 |
| NC_000005.9:g.127671734G>A , CM000667.1:g.127671734G>A | GRCh37 |
| NC_000005.8:g.127699633G>A | NCBI36 |
| NG_008750.1:g.207002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.454C>T | ||
| ENST00000703785.1:n.535C>T | ||
| ENST00000262464.9:c.3670C>T MANE Select | ENSP00000262464.4:p.Gln1224Ter | |
| ENST00000262464.8:c.3670C>T | ENSP00000262464.4:p.Gln1224Ter | |
| ENST00000507835.5:c.220C>T | ENSP00000426839.1:p.Gln74Ter | |
| ENST00000508053.5:c.3670C>T | ENSP00000424571.1:p.Gln1224Ter | |
| ENST00000508989.5:c.3571C>T | ENSP00000425596.1:p.Gln1191Ter | |
| ENST00000619499.4:c.3667C>T | ENSP00000482132.1:p.Gln1223Ter | |
| NM_001999.3:c.3670C>T | NP_001990.2:p.Gln1224Ter | |
| XM_017009228.2:c.3517C>T | XP_016864717.1:p.Gln1173Ter | |
| NM_001999.4:c.3670C>T MANE Select | NP_001990.2:p.Gln1224Ter |