gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100640846G>A , CM000669.2:g.100640846G>A | GRCh38 |
| NC_000007.13:g.100238469G>A , CM000669.1:g.100238469G>A | GRCh37 |
| NC_000007.12:g.100076405G>A | NCBI36 |
| NG_007989.1:g.5705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.313C>T MANE Select | ENSP00000223051.3:p.Arg105Ter | |
| ENST00000223051.7:c.313C>T | ENSP00000223051.3:p.Arg105Ter | |
| ENST00000431692.5:c.313C>T | ENSP00000413905.1:p.Arg105Ter | |
| ENST00000462107.1:c.313C>T | ENSP00000420525.1:p.Arg105Ter | |
| ENST00000465294.5:n.318C>T | ||
| ENST00000474947.1:n.471C>T | ||
| NM_003227.3:c.313C>T | NP_003218.2:p.Arg105Ter | |
| XM_005250553.3:c.313C>T | XP_005250610.1:p.Arg105Ter | |
| XM_005250554.3:c.313C>T | XP_005250611.1:p.Arg105Ter | |
| XM_005250553.4:c.313C>T | XP_005250610.1:p.Arg105Ter | |
| XM_017012573.1:c.313C>T | XP_016868062.1:p.Arg105Ter | |
| NM_003227.4:c.313C>T MANE Select | NP_003218.2:p.Arg105Ter |