Revel Score:
ENST00000286479 (MANE Select)
0.118
ENST00000520116
0.118
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001774 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400785A>G , CM000670.2:g.18400785A>G | GRCh38 |
| NC_000008.10:g.18258295A>G , CM000670.1:g.18258295A>G | GRCh37 |
| NC_000008.9:g.18302575A>G | NCBI36 |
| NG_012246.1:g.14541A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.782A>G MANE Select | ENSP00000286479.3:p.Glu261Gly | |
| ENST00000286479.3:c.782A>G | ENSP00000286479.3:p.Glu261Gly | |
| ENST00000520116.1:c.392A>G | ENSP00000428416.1:p.Glu131Gly | |
| NM_000015.2:c.782A>G | NP_000006.2:p.Glu261Gly | |
| XM_011544358.1:c.782A>G | XP_011542660.1:p.Glu261Gly | |
| XM_017012938.1:c.782A>G | XP_016868427.1:p.Glu261Gly | |
| NM_000015.3:c.782A>G MANE Select | NP_000006.2:p.Glu261Gly |