Revel Score:
ENST00000398606 (MANE Select)
0.236
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004378 (AFR)
Genomes Max Group AF
0.00003254 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586113A>G , CM000673.2:g.67586113A>G | GRCh38 |
| NC_000011.9:g.67353584A>G , CM000673.1:g.67353584A>G | GRCh37 |
| NC_000011.8:g.67110160A>G | NCBI36 |
| NG_012075.1:g.7519A>G , LRG_723:g.7519A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-276A>G | ENSP00000381604.1:n.337-276A>G | |
| ENST00000398606.10:c.346A>G MANE Select | ENSP00000381607.3:p.Lys116Glu | |
| ENST00000646888.1:c.*62A>G | ENSP00000494477.1:n.*62A>G | |
| ENST00000398603.5:c.337-276A>G | ENSP00000381604.1:n.337-276A>G | |
| ENST00000398606.7:c.346A>G | ENSP00000381607.3:p.Lys116Glu | |
| ENST00000467591.1:n.457A>G | ||
| ENST00000494593.1:n.1141A>G | ||
| ENST00000495996.1:c.10A>G | ENSP00000484686.1:p.Lys4Glu | |
| ENST00000498765.5:c.409A>G | ||
| NM_000852.3:c.346A>G , LRG_723t1:c.346A>G | NP_000843.1:p.Lys116Glu | |
| NM_000852.4:c.346A>G MANE Select | NP_000843.1:p.Lys116Glu |