Revel Score:
ENST00000262738
0.327
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036215 (NFE)
Genomes Max Group AF
0.00053356 (NFE)
Exomes Max Group AF
0.00034383 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46378661C>T , CM000684.2:g.46378661C>T | GRCh38 |
| NC_000022.10:g.46774558C>T , CM000684.1:g.46774558C>T | GRCh37 |
| NC_000022.9:g.45153222C>T | NCBI36 |
| NG_030466.1:g.163510G>A | |
| NG_030466.2:g.163510G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262738.9:c.7313G>A | ENSP00000262738.3:p.Arg2438Gln | |
| ENST00000674341.1:n.2390G>A | ||
| ENST00000674500.2:c.7313G>A MANE Select | ENSP00000501367.2:p.Arg2438Gln | |
| ENST00000262738.7:c.7313G>A | ENSP00000262738.3:p.Arg2438Gln | |
| NM_014246.1:c.7313G>A | NP_055061.1:p.Arg2438Gln | |
| XM_006724383.2:c.7313G>A | XP_006724446.1:p.Arg2438Gln | |
| XM_011530554.1:c.3806G>A | XP_011528856.1:p.Arg1269Gln | |
| XM_011530555.1:c.3710G>A | XP_011528857.1:p.Arg1237Gln | |
| XM_006724383.3:c.7313G>A | XP_006724446.1:p.Arg2438Gln | |
| XM_011530554.2:c.3806G>A | XP_011528856.1:p.Arg1269Gln | |
| XM_011530555.2:c.3710G>A | XP_011528857.1:p.Arg1237Gln | |
| NM_014246.2:c.7313G>A | NP_055061.1:p.Arg2438Gln | |
| NM_014246.3:c.7313G>A | NP_055061.1:p.Arg2438Gln | |
| NM_001378328.1:c.7313G>A MANE Select | NP_001365257.1:p.Arg2438Gln | |
| NM_014246.4:c.7313G>A | NP_055061.1:p.Arg2438Gln |