gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Exomes Max Group AF
0.0000099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186727258C>T , CM000665.2:g.186727258C>T | GRCh38 |
| NC_000003.11:g.186445047C>T , CM000665.1:g.186445047C>T | GRCh37 |
| NC_000003.10:g.187927741C>T | NCBI36 |
| NG_016009.1:g.14950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.586C>T | ENSP00000287611.2:p.Arg196Ter | |
| ENST00000644859.2:c.586C>T MANE Select | ENSP00000493985.1:p.Arg196Ter | |
| ENST00000265023.8:c.586C>T | ENSP00000265023.4:p.Arg196Ter | |
| ENST00000287611.6:c.586C>T | ENSP00000287611.2:p.Arg196Ter | |
| ENST00000447445.1:c.564+1998C>T | ENSP00000396025.1:n.564+1998C>T | |
| NM_000893.3:c.586C>T | NP_000884.1:p.Arg196Ter | |
| NM_001102416.2:c.586C>T | NP_001095886.1:p.Arg196Ter | |
| NM_001166451.1:c.564+1998C>T | NP_001159923.1:n.564+1998C>T | |
| NM_000893.4:c.586C>T | NP_000884.1:p.Arg196Ter | |
| NM_001102416.3:c.586C>T MANE Select | NP_001095886.1:p.Arg196Ter | |
| NM_001166451.2:c.564+1998C>T | NP_001159923.1:n.564+1998C>T |