Revel Score:
ENST00000556922
0.488
ENST00000555399
0.488
ENST00000304984
0.488
ENST00000555810
0.488
ENST00000554444
0.488
ENST00000315491 (MANE Select)
0.488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935214G>A , CM000678.2:g.89935214G>A | GRCh38 |
| NC_000016.9:g.90001622G>A , CM000678.1:g.90001622G>A | GRCh37 |
| NC_000016.8:g.88529123G>A | NCBI36 |
| NG_027810.1:g.18206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.763G>A MANE Select | ENSP00000320295.7:p.Val255Ile | |
| ENST00000680788.1:n.4184G>A | ||
| ENST00000315491.11:c.763G>A | ENSP00000320295.7:p.Val255Ile | |
| ENST00000554444.5:c.547G>A | ENSP00000451617.1:p.Val183Ile | |
| ENST00000555576.5:c.277+1636G>A | ENSP00000452554.1:n.277+1636G>A | |
| ENST00000555609.5:c.*848G>A | ENSP00000451276.1:n.*848G>A | |
| ENST00000555810.5:c.547G>A | ENSP00000450538.1:p.Val183Ile | |
| ENST00000556922.1:c.1804G>A | ENSP00000451560.1:p.Val602Ile | |
| NM_001197181.1:c.547G>A | NP_001184110.1:p.Val183Ile | |
| NM_006086.3:c.763G>A | NP_006077.2:p.Val255Ile | |
| NM_006086.4:c.763G>A MANE Select | NP_006077.2:p.Val255Ile | |
| NM_001197181.2:c.547G>A | NP_001184110.1:p.Val183Ile |