Revel Score:
ENST00000254854 (MANE Select)
0.650
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013942G>A , CM000679.2:g.8013942G>A | GRCh38 |
| NC_000017.10:g.7917260G>A , CM000679.1:g.7917260G>A | GRCh37 |
| NC_000017.9:g.7857985G>A | NCBI36 |
| NG_009092.1:g.16273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2326G>A MANE Select | ENSP00000254854.4:p.Ala776Thr | |
| ENST00000254854.4:c.2326G>A | ENSP00000254854.4:p.Ala776Thr | |
| NM_000180.3:c.2326G>A | NP_000171.1:p.Ala776Thr | |
| XM_011523816.1:c.2326G>A | XP_011522118.1:p.Ala776Thr | |
| NM_000180.4:c.2326G>A MANE Select | NP_000171.1:p.Ala776Thr |