Revel Score:
ENST00000426263 (MANE Select)
0.737
ENST00000372501
0.737
ENST00000397019
0.737
ENST00000439722
0.737
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004346 (NFE)
Genomes Max Group AF
0.00005843 (NFE)
Exomes Max Group AF
0.00003977 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929694T>C , CM000663.2:g.42929694T>C | GRCh38 |
| NC_000001.10:g.43395365T>C , CM000663.1:g.43395365T>C | GRCh37 |
| NC_000001.9:g.43167952T>C | NCBI36 |
| NG_008232.1:g.34483A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.766A>G MANE Select | ENSP00000416293.2:p.Lys256Glu | |
| ENST00000669445.1:c.96A>G | ||
| ENST00000674765.1:c.766A>G | ENSP00000501811.1:p.Lys256Glu | |
| ENST00000675112.1:n.789A>G | ||
| ENST00000676254.1:n.1215A>G | ||
| ENST00000426263.7:c.766A>G | ENSP00000416293.2:p.Lys256Glu | |
| ENST00000439722.2:c.645A>G | ENSP00000395521.2:n.645A>G | |
| ENST00000475162.3:c.415+932A>G | ||
| ENST00000630287.2:c.*81A>G | ENSP00000486694.1:n.*81A>G | |
| NM_006516.2:c.766A>G | NP_006507.2:p.Lys256Glu | |
| NM_006516.3:c.766A>G | NP_006507.2:p.Lys256Glu | |
| NM_006516.4:c.766A>G MANE Select | NP_006507.2:p.Lys256Glu |