COSMIC:
COSM6350879 (not active)
Revel Score:
ENST00000264033 (MANE Select)
0.327
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04520013 (EAS)
Genomes Max Group AF
0.03578544 (EAS)
Exomes Max Group AF
0.04594305 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119285483C>T , CM000673.2:g.119285483C>T | GRCh38 |
| NC_000011.9:g.119156193C>T , CM000673.1:g.119156193C>T | GRCh37 |
| NC_000011.8:g.118661403C>T | NCBI36 |
| NG_016808.1:g.84204C>T , LRG_608:g.84204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1310C>T | ENSP00000515005.1:n.*1310C>T | |
| ENST00000264033.6:c.1858C>T MANE Select | ENSP00000264033.3:p.Leu620Phe | |
| ENST00000637974.1:c.1852C>T | ENSP00000490763.1:p.Leu618Phe | |
| ENST00000264033.5:c.1858C>T | ENSP00000264033.3:p.Leu620Phe | |
| ENST00000634586.1:c.1858C>T | ENSP00000489218.1:p.Leu620Phe | |
| ENST00000634840.1:c.1726C>T | ENSP00000489324.1:p.Leu576Phe | |
| NM_005188.3:c.1858C>T , LRG_608t1:c.1858C>T | NP_005179.2:p.Leu620Phe | |
| NM_005188.4:c.1858C>T MANE Select | NP_005179.2:p.Leu620Phe |