Revel Score:
ENST00000160382 (MANE Select)
0.288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100655545C>A , CM000669.2:g.100655545C>A | GRCh38 |
| NC_000007.13:g.100253168C>A , CM000669.1:g.100253168C>A | GRCh37 |
| NC_000007.12:g.100091104C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.144G>T MANE Select | ENSP00000160382.5:p.Glu48Asp | |
| ENST00000160382.9:c.144G>T | ENSP00000160382.5:p.Glu48Asp | |
| ENST00000461605.1:c.-100G>T | ENSP00000420151.1:n.-100G>T | |
| ENST00000485601.5:n.225G>T | ||
| ENST00000487225.5:n.372G>T | ||
| NM_016188.4:c.144G>T | NP_057272.1:p.Glu48Asp | |
| XR_927476.1:n.251G>T | ||
| NR_134539.1:n.251G>T | ||
| NM_016188.5:c.144G>T MANE Select | NP_057272.1:p.Glu48Asp | |
| NR_134539.2:n.238G>T |