Revel Score:
ENST00000316623 (MANE Select)
0.802
ENST00000389087
0.802
ENST00000544030
0.802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48448852C>T , CM000677.2:g.48448852C>T | GRCh38 |
| NC_000015.9:g.48741049C>T , CM000677.1:g.48741049C>T | GRCh37 |
| NC_000015.8:g.46528341C>T | NCBI36 |
| NG_008805.2:g.201937G>A , LRG_778:g.201937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5587G>A | ENSP00000453958.2:p.Gly1863Arg | |
| ENST00000674301.2:c.5587G>A | ENSP00000501333.2:p.Gly1863Arg | |
| ENST00000684448.1:n.4261G>A | ||
| ENST00000316623.10:c.5587G>A MANE Select | ENSP00000325527.5:p.Gly1863Arg | |
| ENST00000674301.1:c.586G>A | ENSP00000501333.1:p.Gly196Arg | |
| ENST00000316623.9:c.5587G>A | ENSP00000325527.5:p.Gly1863Arg | |
| ENST00000537463.6:c.*1350G>A | ENSP00000440294.2:n.*1350G>A | |
| ENST00000559133.5:c.894G>A | ||
| NM_000138.4:c.5587G>A , LRG_778t1:c.5587G>A | NP_000129.3:p.Gly1863Arg | |
| NM_000138.5:c.5587G>A MANE Select | NP_000129.3:p.Gly1863Arg |