Revel Score:
ENST00000311322
0.614
ENST00000535763
0.614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962126G>A , CM000670.2:g.19962126G>A | GRCh38 |
| NC_000008.10:g.19819637G>A , CM000670.1:g.19819637G>A | GRCh37 |
| NC_000008.9:g.19863917G>A | NCBI36 |
| NG_008855.1:g.28056G>A | |
| NG_008855.2:g.65410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1334G>A MANE Select | ENSP00000497642.1:p.Cys445Tyr | |
| ENST00000650478.1:c.274G>A | ENSP00000497560.1:n.274G>A | |
| ENST00000311322.8:c.1334G>A | ENSP00000309757.6:p.Cys445Tyr | |
| NM_000237.2:c.1334G>A | NP_000228.1:p.Cys445Tyr | |
| NM_000237.3:c.1334G>A MANE Select | NP_000228.1:p.Cys445Tyr |