gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000326 (NFE)
Exomes Max Group AF
0.00003374 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97699370C>A , CM000663.2:g.97699370C>A | GRCh38 |
| NC_000001.10:g.98164926C>A , CM000663.1:g.98164926C>A | GRCh37 |
| NC_000001.9:g.97937514C>A | NCBI36 |
| NG_008807.2:g.226690G>T , LRG_722:g.226690G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.661G>T MANE Select | ENSP00000359211.3:p.Glu221Ter | |
| ENST00000370192.7:c.661G>T | ENSP00000359211.3:p.Glu221Ter | |
| ENST00000474241.1:n.425G>T | ||
| NM_000110.3:c.661G>T , LRG_722t1:c.661G>T | NP_000101.2:p.Glu221Ter | |
| XM_005270562.3:c.661G>T | XP_005270619.2:p.Glu221Ter | |
| XM_006710397.2:c.661G>T | XP_006710460.1:p.Glu221Ter | |
| XM_006710397.3:c.661G>T | XP_006710460.1:p.Glu221Ter | |
| XM_017000507.1:c.550G>T | XP_016855996.1:p.Glu184Ter | |
| XM_017000508.2:c.166G>T | XP_016855997.1:p.Glu56Ter | |
| XM_017000509.2:c.166G>T | XP_016855998.1:p.Glu56Ter | |
| XM_017000510.1:c.166G>T | XP_016855999.1:p.Glu56Ter | |
| NM_000110.4:c.661G>T MANE Select | NP_000101.2:p.Glu221Ter |