COSMIC:
COSM3755751 (not active)
Revel Score:
ENST00000262406 (MANE Select)
0.008
ENST00000449996
0.008
ENST00000443584
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03796756 (EAS)
Genomes Max Group AF
0.02970713 (EAS)
Exomes Max Group AF
0.0386006 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65193569C>T , CM000679.2:g.65193569C>T | GRCh38 |
| NC_000017.10:g.63189687C>T , CM000679.1:g.63189687C>T | GRCh37 |
| NC_000017.9:g.60620149C>T | NCBI36 |
| NG_013021.1:g.61232C>T | |
| NG_013021.2:g.61232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262406.10:c.773C>T MANE Select | ENSP00000262406.9:p.Ser258Leu | |
| ENST00000635833.1:c.773C>T | ENSP00000490658.1:p.Ser258Leu | |
| ENST00000262406.9:c.773C>T | ENSP00000262406.9:p.Ser258Leu | |
| ENST00000443584.7:c.764C>T | ENSP00000405814.3:p.Ser255Leu | |
| ENST00000449996.7:c.764C>T | ENSP00000396329.3:p.Ser255Leu | |
| ENST00000577595.1:n.701C>T | ||
| ENST00000581175.5:n.781C>T | ||
| ENST00000584234.5:c.773C>T | ENSP00000463410.1:p.Ser258Leu | |
| NM_001081955.2:c.764C>T | NP_001075424.1:p.Ser255Leu | |
| NM_001165933.1:c.764C>T | NP_001159405.1:p.Ser255Leu | |
| NM_003835.3:c.773C>T | NP_003826.2:p.Ser258Leu | |
| XM_011525426.1:c.185C>T | XP_011523728.1:p.Ser62Leu | |
| XM_011525426.3:c.185C>T | XP_011523728.1:p.Ser62Leu | |
| NM_003835.4:c.773C>T MANE Select | NP_003826.2:p.Ser258Leu | |
| NM_001081955.3:c.764C>T | NP_001075424.1:p.Ser255Leu | |
| NM_001165933.2:c.764C>T | NP_001159405.1:p.Ser255Leu |