Revel Score:
ENST00000254770 (MANE Select)
0.020
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55366191A>G , CM000669.2:g.55366191A>G | GRCh38 |
| NC_000007.13:g.55433884A>G , CM000669.1:g.55433884A>G | GRCh37 |
| NC_000007.12:g.55401378A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254770.3:c.166A>G MANE Select | ENSP00000254770.2:p.Thr56Ala | |
| ENST00000254770.2:c.166A>G | ENSP00000254770.2:p.Thr56Ala | |
| ENST00000452107.6:c.81A>G | ||
| NM_018697.3:c.166A>G | NP_061167.1:p.Thr56Ala | |
| NM_018697.4:c.166A>G MANE Select | NP_061167.1:p.Thr56Ala |