gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005575 (NFE)
Exomes Max Group AF
0.00005834 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34992363C>T , CM000673.2:g.34992363C>T | GRCh38 |
| NC_000011.9:g.35013910C>T , CM000673.1:g.35013910C>T | GRCh37 |
| NC_000011.8:g.34970486C>T | NCBI36 |
| NG_013368.1:g.81234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.1051C>T | ENSP00000389404.3:p.Gln351Ter | |
| ENST00000227868.9:c.1231C>T MANE Select | ENSP00000227868.4:p.Gln411Ter | |
| ENST00000227868.8:c.1231C>T | ENSP00000227868.4:p.Gln411Ter | |
| ENST00000430469.6:c.550C>T | ENSP00000415695.2:p.Gln184Ter | |
| ENST00000448838.7:c.1186C>T | ENSP00000389404.2:p.Gln396Ter | |
| ENST00000477173.3:n.145C>T | ||
| ENST00000526309.1:c.294C>T | ||
| NM_001135024.1:c.1186C>T | NP_001128496.1:p.Gln396Ter | |
| NM_001166158.1:c.550C>T | NP_001159630.1:p.Gln184Ter | |
| NM_003477.2:c.1231C>T | NP_003468.2:p.Gln411Ter | |
| XM_011520390.1:c.1051C>T | XP_011518692.1:p.Gln351Ter | |
| NM_003477.3:c.1231C>T MANE Select | NP_003468.2:p.Gln411Ter | |
| NM_001135024.2:c.1051C>T | NP_001128496.2:p.Gln351Ter | |
| NM_001166158.2:c.550C>T | NP_001159630.1:p.Gln184Ter |