Revel Score:
ENST00000367274
0.146
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002978 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202335751G>C , CM000663.2:g.202335751G>C | GRCh38 |
| NC_000001.10:g.202304879G>C , CM000663.1:g.202304879G>C | GRCh37 |
| NC_000001.9:g.200571502G>C | NCBI36 |
| NG_042230.1:g.11216C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699423.1:c.4C>G | ENSP00000514379.1:p.Gln2Glu | |
| ENST00000699424.1:c.4C>G | ENSP00000514380.1:p.Gln2Glu | |
| ENST00000699425.1:c.4C>G | ENSP00000514381.1:p.Gln2Glu | |
| ENST00000699426.1:n.121C>G | ||
| ENST00000699427.1:n.140C>G | ||
| ENST00000699428.1:c.4C>G | ENSP00000514382.1:p.Gln2Glu | |
| ENST00000699429.1:c.4C>G | ENSP00000514383.1:p.Gln2Glu | |
| ENST00000460852.2:n.110C>G | ||
| ENST00000487227.6:n.154C>G | ||
| ENST00000643045.1:c.4C>G | ENSP00000496572.1:p.Gln2Glu | |
| ENST00000646595.1:n.144C>G | ||
| ENST00000646651.1:c.4C>G MANE Select | ENSP00000494957.1:p.Gln2Glu | |
| ENST00000367274.8:c.4C>G | ENSP00000356243.4:p.Gln2Glu | |
| ENST00000460852.1:n.68C>G | ||
| ENST00000487227.5:n.154C>G | ||
| NM_001310326.1:c.-91C>G | NP_001297255.1:n.-91C>G | |
| NM_014176.3:c.4C>G | NP_054895.1:p.Gln2Glu | |
| NM_014176.4:c.4C>G MANE Select | NP_054895.1:p.Gln2Glu | |
| NM_001310326.2:c.-91C>G | NP_001297255.1:n.-91C>G |