Revel Score:
ENST00000301141 (MANE Select)
0.083
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843827C>T , CM000681.2:g.40843827C>T | GRCh38 |
| NC_000019.9:g.41349732C>T , CM000681.1:g.41349732C>T | GRCh37 |
| NC_000019.8:g.46041572C>T | NCBI36 |
| NG_008377.1:g.11621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1454G>A MANE Select | ENSP00000301141.4:p.Arg485Gln | |
| ENST00000301141.9:c.1454G>A | ENSP00000301141.4:p.Arg485Gln | |
| ENST00000599960.1:n.373G>A | ||
| ENST00000601627.1:c.119+42412C>T | ||
| ENST00000610301.1:c.1454G>A | ENSP00000477899.1:p.Arg485Gln | |
| NM_000762.5:c.1454G>A | NP_000753.3:p.Arg485Gln | |
| NM_000762.6:c.1454G>A MANE Select | NP_000753.3:p.Arg485Gln |