Revel Score:
ENST00000446378 (MANE Select)
0.089
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13972943 (AMR)
Genomes Max Group AF
0.10989857 (NFE)
Exomes Max Group AF
0.15135259 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79745234A>G , CM000667.2:g.79745234A>G | GRCh38 |
| NC_000005.9:g.79041057A>G , CM000667.1:g.79041057A>G | GRCh37 |
| NC_000005.8:g.79076813A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446378.3:c.10747A>G MANE Select | ENSP00000394770.2:p.Lys3583Glu | |
| ENST00000446378.2:c.10747A>G | ENSP00000394770.2:p.Lys3583Glu | |
| ENST00000506603.5:n.1371A>G | ||
| NM_153610.4:c.10747A>G | NP_705838.3:p.Lys3583Glu | |
| XR_948242.1:n.10819A>G | ||
| XM_017009212.1:c.10531A>G | XP_016864701.1:p.Lys3511Glu | |
| XR_001742036.2:n.10948A>G | ||
| XR_948242.2:n.10948A>G | ||
| NM_153610.5:c.10747A>G MANE Select | NP_705838.3:p.Lys3583Glu |