Revel Score:
ENST00000402703
0.928
ENST00000361487 (MANE Select)
0.928
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36662975G>A , CM000676.2:g.36662975G>A | GRCh38 |
| NC_000014.8:g.37132180G>A , CM000676.1:g.37132180G>A | GRCh37 |
| NC_000014.7:g.36201931G>A | NCBI36 |
| NG_013357.1:g.10408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.83G>A MANE Select | ENSP00000355245.6:p.Arg28His | |
| ENST00000555639.2:c.83G>A | ENSP00000501203.1:p.Arg28His | |
| ENST00000361487.6:c.83G>A | ENSP00000355245.6:p.Arg28His | |
| ENST00000402703.6:c.83G>A | ENSP00000384817.2:p.Arg28His | |
| ENST00000554201.1:c.-479G>A | ENSP00000450434.1:n.-479G>A | |
| ENST00000555639.1:n.385G>A | ||
| NM_006194.3:c.83G>A | NP_006185.1:p.Arg28His | |
| NM_001372076.1:c.83G>A MANE Select | NP_001359005.1:p.Arg28His | |
| NM_006194.4:c.83G>A | NP_006185.1:p.Arg28His |