Revel Score:
ENST00000389653
0.310
ENST00000340083 (MANE Select)
0.310
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00042 (AFR)
Genomes Max Group AF
0.00055986 (AFR)
Exomes Max Group AF
0.00014452 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3489692G>A , CM000666.2:g.3489692G>A | GRCh38 |
| NC_000004.11:g.3491419G>A , CM000666.1:g.3491419G>A | GRCh37 |
| NC_000004.10:g.3461217G>A | NCBI36 |
| NG_013072.2:g.31387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.668G>A MANE Select | ENSP00000344432.5:p.Gly223Glu | |
| ENST00000643608.1:c.236G>A | ENSP00000495701.1:p.Gly79Glu | |
| ENST00000340083.5:c.668G>A | ENSP00000344432.5:p.Gly223Glu | |
| ENST00000503688.5:n.301G>A | ||
| ENST00000507039.5:c.657G>A | ENSP00000423614.1:p.Gly219= | |
| ENST00000513995.1:n.326G>A | ||
| ENST00000515886.5:n.436G>A | ||
| NM_001164673.1:c.657G>A | NP_001158145.1:p.Gly219= | |
| NM_001256896.1:c.-263G>A | NP_001243825.1:n.-263G>A | |
| NM_001301071.1:c.668G>A | NP_001288000.1:p.Gly223Glu | |
| NM_173660.4:c.668G>A | NP_775931.3:p.Gly223Glu | |
| XM_011513435.1:c.668G>A | XP_011511737.1:p.Gly223Glu | |
| XM_011513436.1:c.668G>A | XP_011511738.1:p.Gly223Glu | |
| XM_011513437.1:c.254G>A | XP_011511739.1:p.Gly85Glu | |
| NM_001363811.1:c.236G>A | NP_001350740.1:p.Gly79Glu | |
| XM_011513435.2:c.668G>A | XP_011511737.1:p.Gly223Glu | |
| XM_011513437.2:c.254G>A | XP_011511739.1:p.Gly85Glu | |
| NM_173660.5:c.668G>A MANE Select | NP_775931.3:p.Gly223Glu | |
| NM_001164673.2:c.657G>A | NP_001158145.1:p.Gly219= | |
| NM_001301071.2:c.668G>A | NP_001288000.1:p.Gly223Glu | |
| NM_001363811.2:c.236G>A | NP_001350740.1:p.Gly79Glu | |
| NM_001256896.2:c.-263G>A | NP_001243825.1:n.-263G>A |