Revel Score:
ENST00000496887
0.728
ENST00000155840 (MANE Select)
0.728
ENST00000335475
0.728
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527978A>G , CM000673.2:g.2527978A>G | GRCh38 |
| NC_000011.9:g.2549208A>G , CM000673.1:g.2549208A>G | GRCh37 |
| NC_000011.8:g.2505784A>G | NCBI36 |
| NG_008935.1:g.87988A>G , LRG_287:g.87988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.176A>G | ENSP00000434560.2:p.Glu59Gly | |
| ENST00000646564.2:c.437A>G | ENSP00000495806.2:p.Glu146Gly | |
| ENST00000155840.12:c.437A>G MANE Select | ENSP00000155840.2:p.Glu146Gly | |
| ENST00000335475.6:c.56A>G | ENSP00000334497.5:p.Glu19Gly | |
| ENST00000646564.1:c.83A>G | ENSP00000495806.1:p.Glu28Gly | |
| ENST00000155840.9:c.437A>G | ENSP00000155840.2:p.Glu146Gly | |
| ENST00000335475.5:c.56A>G | ENSP00000334497.5:p.Glu19Gly | |
| ENST00000496887.6:c.176A>G | ENSP00000434560.1:p.Glu59Gly | |
| NM_000218.2:c.437A>G , LRG_287t1:c.437A>G | NP_000209.2:p.Glu146Gly | |
| NM_181798.1:c.56A>G , LRG_287t2:c.56A>G | NP_861463.1:p.Glu19Gly | |
| NM_000218.3:c.437A>G MANE Select | NP_000209.2:p.Glu146Gly |