COSMIC:
COSM4591324 (not active)
COSM4591325 (not active)
Revel Score:
ENST00000241041
0.092
ENST00000378750 (MANE Select)
0.092
ENST00000532681
0.092
ENST00000525192
0.092
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99848618 (NFE)
Genomes Max Group AF
0.99370097 (NFE)
Exomes Max Group AF
0.99844034 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45915716C>T , CM000673.2:g.45915716C>T | GRCh38 |
| NC_000011.9:g.45937267C>T , CM000673.1:g.45937267C>T | GRCh37 |
| NC_000011.8:g.45893843C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.346G>A MANE Select | ENSP00000368024.5:p.Val116Ile | |
| ENST00000241041.7:c.346G>A | ENSP00000241041.3:p.Val116Ile | |
| ENST00000378750.9:c.346G>A | ENSP00000368024.5:p.Val116Ile | |
| ENST00000525192.5:c.61G>A | ENSP00000431309.1:p.Val21Ile | |
| ENST00000525229.5:c.*299G>A | ENSP00000431132.1:n.*299G>A | |
| ENST00000528674.5:c.*245G>A | ENSP00000434060.1:n.*245G>A | |
| ENST00000529030.1:c.*331G>A | ENSP00000432486.1:n.*331G>A | |
| ENST00000532554.5:n.131-148G>A | ||
| ENST00000532681.5:c.61G>A | ENSP00000434654.1:p.Val21Ile | |
| ENST00000533151.5:c.149-1032G>A | ENSP00000433045.1:n.149-1032G>A | |
| XM_011520474.1:c.223G>A | XP_011518776.1:p.Val75Ile | |
| NM_004813.4:c.346G>A MANE Select | NP_004804.2:p.Val116Ile | |
| NM_057174.3:c.346G>A | NP_476515.2:p.Val116Ile |