Revel Score:
ENST00000539111 (MANE Select)
0.125
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021783 (SAS)
Genomes Max Group AF
0.00021492 (AMR)
Exomes Max Group AF
0.000221 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64496473G>C , CM000679.2:g.64496473G>C | GRCh38 |
| NC_000017.10:g.62492591G>C , CM000679.1:g.62492591G>C | GRCh37 |
| NC_000017.9:g.59923053G>C | NCBI36 |
| NG_013029.1:g.5594C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.496C>G MANE Select | ENSP00000442563.2:p.Gln166Glu | |
| ENST00000585104.2:n.467C>G | ||
| ENST00000671755.1:c.467C>G | ||
| ENST00000673460.1:c.467C>G | ||
| ENST00000539111.6:c.496C>G | ENSP00000442563.2:p.Gln166Glu | |
| ENST00000578997.1:c.224+59C>G | ENSP00000464389.1:n.224+59C>G | |
| ENST00000585141.5:n.547C>G | ||
| NM_007215.3:c.496C>G | NP_009146.2:p.Gln166Glu | |
| XM_006721651.2:c.496C>G | XP_006721714.1:p.Gln166Glu | |
| XR_243630.1:n.547C>G | ||
| XR_934357.1:n.547C>G | ||
| XR_934358.1:n.547C>G | ||
| NM_007215.4:c.496C>G MANE Select | NP_009146.2:p.Gln166Glu |