gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31484914C>T , CM000678.2:g.31484914C>T | GRCh38 |
| NC_000016.9:g.31496235C>T , CM000678.1:g.31496235C>T | GRCh37 |
| NC_000016.8:g.31403736C>T | NCBI36 |
| NG_012892.1:g.6797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330498.4:c.294C>T MANE Select | ENSP00000327943.3:p.Phe98= | |
| ENST00000330498.3:c.294C>T | ENSP00000327943.3:p.Phe98= | |
| ENST00000419665.6:c.294C>T | ENSP00000410601.2:p.Phe98= | |
| ENST00000562006.1:n.293C>T | ||
| ENST00000565446.1:n.168C>T | ||
| ENST00000569576.5:c.165C>T | ENSP00000455143.1:p.Phe55= | |
| NM_003041.3:c.294C>T | NP_003032.1:p.Phe98= | |
| NR_130783.1:n.313C>T | ||
| XM_006721072.2:c.315C>T | XP_006721135.2:p.Phe105= | |
| XM_006721073.2:c.315C>T | XP_006721136.2:p.Phe105= | |
| XM_006721072.4:c.315C>T | XP_006721135.2:p.Phe105= | |
| XM_024450402.1:c.315C>T | XP_024306170.1:p.Phe105= | |
| NM_003041.4:c.294C>T MANE Select | NP_003032.1:p.Phe98= | |
| NR_130783.2:n.308C>T |