COSMIC:
COSM6351582 (not active)
Revel Score:
ENST00000289575 (MANE Select)
0.022
ENST00000341411
0.022
ENST00000532236
0.022
ENST00000531756
0.022
ENST00000525650
0.022
ENST00000454962
0.022
ENST00000428359
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33177437 (AFR)
Genomes Max Group AF
0.32427559 (AFR)
Exomes Max Group AF
0.33787299 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75196537C>T , CM000673.2:g.75196537C>T | GRCh38 |
| NC_000011.9:g.74907582C>T , CM000673.1:g.74907582C>T | GRCh37 |
| NC_000011.8:g.74585230C>T | NCBI36 |
| NG_027921.1:g.50551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289575.10:c.1457C>T MANE Select | ENSP00000289575.5:p.Ser486Phe | |
| ENST00000289575.9:c.1457C>T | ENSP00000289575.5:p.Ser486Phe | |
| ENST00000428359.6:c.1391C>T | ENSP00000388912.2:p.Ser464Phe | |
| ENST00000454962.6:c.776C>T | ENSP00000389653.2:p.Ser259Phe | |
| ENST00000525650.5:c.1025C>T | ENSP00000436324.1:p.Ser342Phe | |
| ENST00000528108.1:n.263C>T | ||
| ENST00000530012.1:n.284C>T | ||
| ENST00000531756.5:n.1004C>T | ||
| ENST00000532236.5:c.1109C>T | ENSP00000434112.1:p.Ser370Phe | |
| NM_001145211.2:c.1391C>T | NP_001138683.1:p.Ser464Phe | |
| NM_001145212.2:c.1025C>T | NP_001138684.1:p.Ser342Phe | |
| NM_007256.4:c.1457C>T | NP_009187.1:p.Ser486Phe | |
| XM_017017157.1:c.1463C>T | XP_016872646.1:p.Ser488Phe | |
| NM_001145211.3:c.1391C>T | NP_001138683.1:p.Ser464Phe | |
| NM_001145212.3:c.1025C>T | NP_001138684.1:p.Ser342Phe | |
| NM_007256.5:c.1457C>T MANE Select | NP_009187.1:p.Ser486Phe |