COSMIC:
COSM3765964 (not active)
Revel Score:
ENST00000555427
0.159
ENST00000556922
0.159
ENST00000555147 (MANE Select)
0.159
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12175214 (NFE)
Genomes Max Group AF
0.11525933 (NFE)
Exomes Max Group AF
0.12203301 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919436G>T , CM000678.2:g.89919436G>T | GRCh38 |
| NC_000016.9:g.89985844G>T , CM000678.1:g.89985844G>T | GRCh37 |
| NC_000016.8:g.88513345G>T | NCBI36 |
| NG_012026.1:g.6558G>T | |
| NG_027810.1:g.2428G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.178G>T MANE Select | ENSP00000451605.1:p.Val60Leu | |
| ENST00000639847.1:c.178G>T | ENSP00000492011.1:p.Val60Leu | |
| ENST00000555147.1:c.178G>T | ENSP00000451605.1:p.Val60Leu | |
| ENST00000555427.1:c.178G>T | ENSP00000451760.1:p.Val60Leu | |
| ENST00000556922.1:c.178G>T | ENSP00000451560.1:p.Val60Leu | |
| NM_002386.3:c.178G>T | NP_002377.4:p.Val60Leu | |
| NM_002386.4:c.178G>T MANE Select | NP_002377.4:p.Val60Leu |