COSMIC:
COSM147313 (not active)
Revel Score:
ENST00000438475
0.047
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21999951 (EAS)
Genomes Max Group AF
0.22970637 (EAS)
Exomes Max Group AF
0.21755334 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102716331G>A , CM000673.2:g.102716331G>A | GRCh38 |
| NC_000011.9:g.102587062G>A , CM000673.1:g.102587062G>A | GRCh37 |
| NC_000011.8:g.102092272G>A | NCBI36 |
| NG_012101.1:g.13624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236826.8:c.873C>T MANE Select | ENSP00000236826.3:p.Leu291= | |
| ENST00000236826.7:c.873C>T | ENSP00000236826.3:p.Leu291= | |
| ENST00000438475.2:c.799C>T | ||
| ENST00000528662.6:c.*850C>T | ENSP00000431431.2:n.*850C>T | |
| NM_001304441.1:c.804C>T | NP_001291370.1:p.Leu268= | |
| NM_001304442.1:c.804C>T | NP_001291371.1:p.Leu268= | |
| NM_002424.2:c.873C>T | NP_002415.1:p.Leu291= | |
| XM_011542834.1:c.900C>T | XP_011541136.1:p.Leu300= | |
| XM_011542835.1:c.804C>T | XP_011541137.1:p.Leu268= | |
| XM_011542836.1:c.900C>T | XP_011541138.1:p.Leu300= | |
| XM_011542834.2:c.900C>T | XP_011541136.1:p.Leu300= | |
| XM_011542835.2:c.804C>T | XP_011541137.1:p.Leu268= | |
| XM_011542836.2:c.900C>T | XP_011541138.1:p.Leu300= | |
| XM_017017771.1:c.804C>T | XP_016873260.1:p.Leu268= | |
| NM_002424.3:c.873C>T MANE Select | NP_002415.1:p.Leu291= | |
| NM_001304441.2:c.804C>T | NP_001291370.1:p.Leu268= | |
| NM_001304442.2:c.804C>T | NP_001291371.1:p.Leu268= |