COSMIC:
COSM147935 (not active)
Revel Score:
ENST00000380343
0.068
ENST00000261879 (MANE Select)
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19116645 (EAS)
Genomes Max Group AF
0.16495976 (EAS)
Exomes Max Group AF
0.19355666 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63305658T>G , CM000677.2:g.63305658T>G | GRCh38 |
| NC_000015.9:g.63597857T>G , CM000677.1:g.63597857T>G | GRCh37 |
| NC_000015.8:g.61384910T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261879.10:c.651T>G MANE Select | ENSP00000261879.5:p.Phe217Leu | |
| ENST00000261879.9:c.651T>G | ENSP00000261879.5:p.Phe217Leu | |
| ENST00000380340.8:c.*469T>G | ENSP00000369697.4:n.*469T>G | |
| ENST00000380343.8:c.528T>G | ENSP00000369700.4:p.Phe176Leu | |
| ENST00000559823.1:n.171-47T>G | ||
| ENST00000559971.5:c.787T>G | ENSP00000453516.1:n.787T>G | |
| ENST00000560353.1:c.523T>G | ENSP00000453327.1:p.Tyr175Asp | |
| ENST00000560716.1:n.485T>G | ||
| ENST00000560890.5:c.489T>G | ENSP00000453002.1:p.Phe163Leu | |
| NM_001145646.1:c.528T>G | NP_001139118.1:p.Phe176Leu | |
| NM_031301.3:c.651T>G | NP_112591.2:p.Phe217Leu | |
| XM_024450085.1:c.489T>G | XP_024305853.1:p.Phe163Leu | |
| XM_024450086.1:c.489T>G | XP_024305854.1:p.Phe163Leu | |
| NM_031301.4:c.651T>G MANE Select | NP_112591.2:p.Phe217Leu | |
| NM_001145646.2:c.528T>G | NP_001139118.1:p.Phe176Leu |