Revel Score:
ENST00000252288 (MANE Select)
0.354
ENST00000447102
0.354
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1398960C>T , CM000681.2:g.1398960C>T | GRCh38 |
| NC_000019.9:g.1398959C>T , CM000681.1:g.1398959C>T | GRCh37 |
| NC_000019.8:g.1349959C>T | NCBI36 |
| NG_009785.1:g.7594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.526G>A MANE Select | ENSP00000252288.1:p.Glu176Lys | |
| ENST00000447102.8:c.526G>A | ENSP00000403536.2:p.Glu176Lys | |
| ENST00000591788.3:c.209G>A | ||
| ENST00000640164.1:n.359G>A | ||
| ENST00000640762.1:c.457G>A | ENSP00000492031.1:p.Glu153Lys | |
| ENST00000252288.6:c.526G>A | ENSP00000252288.1:p.Glu176Lys | |
| ENST00000447102.7:c.526G>A | ENSP00000403536.2:p.Glu176Lys | |
| ENST00000591788.2:c.211G>A | ENSP00000466341.2:p.Glu71Lys | |
| NM_000156.5:c.526G>A | NP_000147.1:p.Glu176Lys | |
| NM_138924.2:c.526G>A | NP_620279.1:p.Glu176Lys | |
| NM_000156.6:c.526G>A MANE Select | NP_000147.1:p.Glu176Lys | |
| NM_138924.3:c.526G>A | NP_620279.1:p.Glu176Lys |