Revel Score:
ENST00000262865
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38309011C>A , CM000682.2:g.38309011C>A | GRCh38 |
| NC_000020.10:g.36937413C>A , CM000682.1:g.36937413C>A | GRCh37 |
| NC_000020.9:g.36370827C>A | NCBI36 |
| NG_047016.1:g.9862C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262865.9:c.339C>A | ENSP00000262865.4:p.Asn113Lys | |
| ENST00000642449.2:c.327C>A MANE Select | ENSP00000494528.2:p.Asn109Lys | |
| ENST00000262865.8:c.339C>A | ENSP00000262865.4:p.Asn113Lys | |
| NM_001725.2:c.339C>A | NP_001716.2:p.Asn113Lys | |
| XM_005260522.2:c.339C>A | XP_005260579.1:p.Asn113Lys | |
| XR_430313.2:n.368C>A | ||
| XR_936707.1:n.135+8414G>T | ||
| XR_936708.1:n.135+8414G>T | ||
| NM_001725.3:c.327C>A MANE Select | NP_001716.3:p.Asn109Lys |