Revel Score:
ENST00000545448
0.140
ENST00000260682 (MANE Select)
0.140
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94947782C>T , CM000672.2:g.94947782C>T | GRCh38 |
| NC_000010.10:g.96707539C>T , CM000672.1:g.96707539C>T | GRCh37 |
| NC_000010.9:g.96697529C>T | NCBI36 |
| NG_008385.1:g.14125C>T | |
| NG_008385.2:g.14625C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.485C>T MANE Select | ENSP00000260682.6:p.Ser162Leu | |
| ENST00000643112.1:c.485C>T | ENSP00000496202.1:p.Ser162Leu | |
| ENST00000645207.1:n.638C>T | ||
| ENST00000260682.6:c.485C>T | ENSP00000260682.6:p.Ser162Leu | |
| ENST00000473496.1:n.256C>T | ||
| NM_000771.3:c.485C>T | NP_000762.2:p.Ser162Leu | |
| NM_000771.4:c.485C>T MANE Select | NP_000762.2:p.Ser162Leu |