Revel Score:
ENST00000399402
0.816
ENST00000307363 (MANE Select)
0.816
ENST00000445488
0.816
ENST00000307377
0.816
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33018482C>T , CM000665.2:g.33018482C>T | GRCh38 |
| NC_000003.11:g.33059974C>T , CM000665.1:g.33059974C>T | GRCh37 |
| NC_000003.10:g.33034978C>T | NCBI36 |
| NG_009005.1:g.83721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1313G>A MANE Select | ENSP00000306920.4:p.Gly438Glu | |
| ENST00000307363.9:c.1313G>A | ENSP00000306920.4:p.Gly438Glu | |
| ENST00000307377.12:c.920G>A | ENSP00000305920.8:p.Gly307Glu | |
| ENST00000399402.7:c.1223G>A | ENSP00000382333.2:p.Gly408Glu | |
| ENST00000461475.5:n.412G>A | ||
| ENST00000467571.5:n.350G>A | ||
| ENST00000497796.5:n.565G>A | ||
| NM_000404.2:c.1313G>A | NP_000395.2:p.Gly438Glu | |
| NM_000404.3:c.1313G>A | NP_000395.2:p.Gly438Glu | |
| NM_001079811.1:c.1223G>A | NP_001073279.1:p.Gly408Glu | |
| NM_001079811.2:c.1223G>A | NP_001073279.1:p.Gly408Glu | |
| NM_001135602.1:c.920G>A | NP_001129074.1:p.Gly307Glu | |
| NM_001135602.2:c.920G>A | NP_001129074.1:p.Gly307Glu | |
| NM_001317040.1:c.1457G>A | NP_001303969.1:p.Gly486Glu | |
| NM_000404.4:c.1313G>A MANE Select | NP_000395.3:p.Gly438Glu | |
| NM_001079811.3:c.1223G>A | NP_001073279.2:p.Gly408Glu | |
| NM_001135602.3:c.920G>A | NP_001129074.2:p.Gly307Glu | |
| NM_001317040.2:c.1457G>A | NP_001303969.2:p.Gly486Glu | |
| NM_001393580.1:c.1313G>A | NP_001380509.1:p.Gly438Glu |