COSMIC:
COSM3758567 (not active)
Revel Score:
ENST00000416600
0.054
ENST00000428216 (MANE Select)
0.054
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37104009 (AFR)
Genomes Max Group AF
0.36606461 (AFR)
Exomes Max Group AF
0.37382638 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3865750C>T , CM000682.2:g.3865750C>T | GRCh38 |
| NC_000020.10:g.3846397C>T , CM000682.1:g.3846397C>T | GRCh37 |
| NC_000020.9:g.3794397C>T | NCBI36 |
| NG_030028.1:g.23952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.1226C>T MANE Select | ENSP00000401980.2:p.Ser409Phe | |
| ENST00000416600.6:c.803C>T | ENSP00000413749.2:p.Ser268Phe | |
| ENST00000428216.3:c.1226C>T | ENSP00000401980.2:p.Ser409Phe | |
| NM_001206491.1:c.803C>T | NP_001193420.1:p.Ser268Phe | |
| NM_020746.4:c.1226C>T | NP_065797.2:p.Ser409Phe | |
| NR_037921.1:n.1225C>T | ||
| NM_020746.5:c.1226C>T MANE Select | NP_065797.2:p.Ser409Phe | |
| NR_037921.2:n.1190C>T | ||
| NM_001206491.2:c.803C>T | NP_001193420.1:p.Ser268Phe | |
| NM_001385663.1:c.803C>T | NP_001372592.1:p.Ser268Phe |