Revel Score:
ENST00000316623 (MANE Select)
0.930
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415681C>T , CM000677.2:g.48415681C>T | GRCh38 |
| NC_000015.9:g.48707878C>T , CM000677.1:g.48707878C>T | GRCh37 |
| NC_000015.8:g.46495170C>T | NCBI36 |
| NG_008805.2:g.235108G>A , LRG_778:g.235108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*714G>A | ENSP00000453958.2:n.*714G>A | |
| ENST00000674301.2:c.*1419G>A | ENSP00000501333.2:n.*1419G>A | |
| ENST00000682158.1:n.1287G>A | ||
| ENST00000682170.1:n.2087G>A | ||
| ENST00000682767.1:n.1203G>A | ||
| ENST00000316623.10:c.7906G>A MANE Select | ENSP00000325527.5:p.Gly2636Ser | |
| ENST00000674301.1:c.3072G>A | ENSP00000501333.1:n.3072G>A | |
| ENST00000316623.9:c.7906G>A | ENSP00000325527.5:p.Gly2636Ser | |
| ENST00000559133.5:c.3275G>A | ||
| ENST00000561429.1:n.161G>A | ||
| NM_000138.4:c.7906G>A , LRG_778t1:c.7906G>A | NP_000129.3:p.Gly2636Ser | |
| NM_000138.5:c.7906G>A MANE Select | NP_000129.3:p.Gly2636Ser |