gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009885 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00010136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80229341C>T , CM000674.2:g.80229341C>T | GRCh38 |
| NC_000012.11:g.80623121C>T , CM000674.1:g.80623121C>T | GRCh37 |
| NC_000012.10:g.79147252C>T | NCBI36 |
| NG_033008.1:g.24889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.574C>T MANE Select | ENSP00000447211.2:p.Arg192Ter | |
| ENST00000643417.1:n.1234C>T | ||
| ENST00000646859.1:c.574C>T | ENSP00000496036.1:p.Arg192Ter | |
| ENST00000458043.6:c.547C>T | ENSP00000400895.2:p.Arg183Ter | |
| ENST00000547103.5:c.547C>T | ENSP00000447211.1:p.Arg183Ter | |
| NM_173591.3:c.547C>T | NP_775862.3:p.Arg183Ter | |
| XM_005268802.2:c.598C>T | XP_005268859.1:p.Arg200Ter | |
| XM_011538191.1:c.598C>T | XP_011536493.1:p.Arg200Ter | |
| XM_011538192.1:c.445C>T | XP_011536494.1:p.Arg149Ter | |
| XM_011538193.1:c.232C>T | XP_011536495.1:p.Arg78Ter | |
| XM_005268802.3:c.598C>T | XP_005268859.1:p.Arg200Ter | |
| XM_011538192.2:c.445C>T | XP_011536494.1:p.Arg149Ter | |
| NM_001368062.1:c.547C>T | NP_001354991.1:p.Arg183Ter | |
| NM_001368062.3:c.574C>T | NP_001354991.2:p.Arg192Ter | |
| NM_001378609.3:c.574C>T MANE Select | NP_001365538.2:p.Arg192Ter | |
| NM_001378610.3:c.574C>T | NP_001365539.2:p.Arg192Ter | |
| NM_173591.7:c.574C>T | NP_775862.4:p.Arg192Ter |