gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001326 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17097829C>T , CM000684.2:g.17097829C>T | GRCh38 |
| NC_000022.10:g.17578719C>T , CM000684.1:g.17578719C>T | GRCh37 |
| NC_000022.9:g.15958719C>T | NCBI36 |
| NG_028257.1:g.17869C>T , LRG_355:g.17869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.196C>T | ENSP00000479970.1:p.Arg66Ter | |
| ENST00000694948.1:n.294C>T | ||
| ENST00000694949.1:n.291C>T | ||
| ENST00000694950.1:c.244-27C>T | ||
| ENST00000694951.1:n.59C>T | ||
| ENST00000319363.11:c.196C>T MANE Select | ENSP00000320936.6:p.Arg66Ter | |
| ENST00000319363.10:c.196C>T | ENSP00000320936.6:p.Arg66Ter | |
| ENST00000477874.1:n.309C>T | ||
| ENST00000612619.1:c.196C>T | ENSP00000479970.1:p.Arg66Ter | |
| NM_001289905.1:c.196C>T | NP_001276834.1:p.Arg66Ter | |
| NM_014339.6:c.196C>T , LRG_355t1:c.196C>T | NP_055154.3:p.Arg66Ter | |
| NM_014339.7:c.196C>T MANE Select | NP_055154.3:p.Arg66Ter | |
| NM_001289905.2:c.196C>T | NP_001276834.1:p.Arg66Ter |