Revel Score:
ENST00000316623 (MANE Select)
0.827
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421651C>T , CM000677.2:g.48421651C>T | GRCh38 |
| NC_000015.9:g.48713848C>T , CM000677.1:g.48713848C>T | GRCh37 |
| NC_000015.8:g.46501140C>T | NCBI36 |
| NG_008805.2:g.229138G>A , LRG_778:g.229138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*414G>A | ENSP00000453958.2:n.*414G>A | |
| ENST00000674301.2:c.*1119G>A | ENSP00000501333.2:n.*1119G>A | |
| ENST00000682170.1:n.1787G>A | ||
| ENST00000682767.1:n.903G>A | ||
| ENST00000316623.10:c.7606G>A MANE Select | ENSP00000325527.5:p.Gly2536Arg | |
| ENST00000674301.1:c.2772G>A | ENSP00000501333.1:n.2772G>A | |
| ENST00000316623.9:c.7606G>A | ENSP00000325527.5:p.Gly2536Arg | |
| ENST00000559133.5:c.2975G>A | ||
| NM_000138.4:c.7606G>A , LRG_778t1:c.7606G>A | NP_000129.3:p.Gly2536Arg | |
| NM_000138.5:c.7606G>A MANE Select | NP_000129.3:p.Gly2536Arg |