Revel Score:
ENST00000420323 (MANE Select)
0.041
ENST00000273600
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23218393 (SAS)
Genomes Max Group AF
0.25752589 (EAS)
Exomes Max Group AF
0.23246912 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52396510G>A , CM000665.2:g.52396510G>A | GRCh38 |
| NC_000003.11:g.52430526G>A , CM000665.1:g.52430526G>A | GRCh37 |
| NC_000003.10:g.52405566G>A | NCBI36 |
| NG_052911.1:g.85192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.11402G>A MANE Select | ENSP00000401514.2:p.Gly3801Asp | |
| ENST00000420323.6:c.11402G>A | ENSP00000401514.2:p.Gly3801Asp | |
| ENST00000486752.5:n.11859G>A | ||
| ENST00000488988.5:n.3188G>A | ||
| ENST00000490713.5:c.2102G>A | ENSP00000419071.1:p.Gly701Asp | |
| NM_015512.4:c.11402G>A | NP_056327.4:p.Gly3801Asp | |
| XM_011533577.1:c.11471G>A | XP_011531879.1:p.Gly3824Asp | |
| XM_017006129.1:c.11471G>A | XP_016861618.1:p.Gly3824Asp | |
| XM_017006130.1:c.11402G>A | XP_016861619.1:p.Gly3801Asp | |
| XM_017006131.1:c.11345G>A | XP_016861620.1:p.Gly3782Asp | |
| XR_001740098.1:n.14620G>A | ||
| XR_001740099.1:n.14620G>A | ||
| NM_015512.5:c.11402G>A MANE Select | NP_056327.4:p.Gly3801Asp |