COSMIC:
COSM3999395 (not active)
Revel Score:
ENST00000328736
0.143
ENST00000556564 (MANE Select)
0.143
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38734059 (SAS)
Genomes Max Group AF
0.40342429 (SAS)
Exomes Max Group AF
0.38569592 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88480278G>A , CM000676.2:g.88480278G>A | GRCh38 |
| NC_000014.8:g.88946622G>A , CM000676.1:g.88946622G>A | GRCh37 |
| NC_000014.7:g.88016375G>A | NCBI36 |
| NG_046949.1:g.79502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556564.6:c.1153C>T MANE Select | ENSP00000452414.1:p.Leu385Phe | |
| ENST00000328736.7:c.1153C>T | ENSP00000330276.3:p.Leu385Phe | |
| ENST00000536337.5:c.*1090C>T | ENSP00000443951.1:n.*1090C>T | |
| ENST00000554270.5:n.1266C>T | ||
| ENST00000556564.5:c.1153C>T | ENSP00000452414.1:p.Leu385Phe | |
| NM_007039.3:c.1153C>T | NP_008970.2:p.Leu385Phe | |
| XM_005267287.1:c.1153C>T | XP_005267344.1:p.Leu385Phe | |
| XM_006720011.2:c.784C>T | XP_006720074.1:p.Leu262Phe | |
| XM_011536367.1:c.1153C>T | XP_011534669.1:p.Leu385Phe | |
| XM_011536368.1:c.784C>T | XP_011534670.1:p.Leu262Phe | |
| XM_011536369.1:c.541C>T | XP_011534671.1:p.Leu181Phe | |
| XM_005267287.3:c.1153C>T | XP_005267344.1:p.Leu385Phe | |
| XM_006720011.3:c.784C>T | XP_006720074.1:p.Leu262Phe | |
| XM_011536367.3:c.1153C>T | XP_011534669.1:p.Leu385Phe | |
| XM_011536368.2:c.784C>T | XP_011534670.1:p.Leu262Phe | |
| XM_011536369.2:c.541C>T | XP_011534671.1:p.Leu181Phe | |
| XM_017020938.2:c.784C>T | XP_016876427.1:p.Leu262Phe | |
| XM_017020939.1:c.541C>T | XP_016876428.1:p.Leu181Phe | |
| NM_007039.4:c.1153C>T MANE Select | NP_008970.2:p.Leu385Phe |