Revel Score:
ENST00000168216 (MANE Select)
0.935
ENST00000375304
0.935
ENST00000375298
0.935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432410A>G , CM000685.2:g.53432410A>G | GRCh38 |
| NC_000023.10:g.53459358A>G , CM000685.1:g.53459358A>G | GRCh37 |
| NC_000023.9:g.53476083A>G | NCBI36 |
| NG_008153.1:g.6966T>C , LRG_450:g.6966T>C | |
| NG_033076.2:g.14556A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.338T>C | ||
| ENST00000682365.1:n.1529T>C | ||
| ENST00000684251.1:n.38T>C | ||
| ENST00000684503.1:n.359T>C | ||
| ENST00000684692.1:c.194T>C | ENSP00000506792.1:p.Val65Ala | |
| ENST00000168216.11:c.194T>C MANE Select | ENSP00000168216.6:p.Val65Ala | |
| ENST00000168216.10:c.194T>C | ENSP00000168216.6:p.Val65Ala | |
| ENST00000375298.4:c.194T>C | ENSP00000364447.4:p.Val65Ala | |
| ENST00000375304.9:c.194T>C | ENSP00000364453.5:p.Val65Ala | |
| ENST00000495986.1:n.326T>C | ||
| NM_001037811.2:c.194T>C , LRG_450t2:c.194T>C | NP_001032900.1:p.Val65Ala | |
| NM_004493.2:c.194T>C , LRG_450t1:c.194T>C | NP_004484.1:p.Val65Ala | |
| NM_004493.3:c.194T>C MANE Select | NP_004484.1:p.Val65Ala |