ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00310995 (AMR)
Genomes Max Group AF
0.00365296 (AMR)
Exomes Max Group AF
0.00272877 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48139515G>A , CM000673.2:g.48139515G>A | GRCh38 |
| NC_000011.9:g.48161067G>A , CM000673.1:g.48161067G>A | GRCh37 |
| NC_000011.8:g.48117643G>A | NCBI36 |
| NG_012209.1:g.163958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.2524G>A | ENSP00000514003.1:p.Glu842Lys | |
| ENST00000418331.7:c.2182G>A MANE Select | ENSP00000400010.2:p.Glu728Lys | |
| ENST00000418331.6:c.2182G>A | ENSP00000400010.2:p.Glu728Lys | |
| ENST00000613246.4:c.2182G>A | ENSP00000477933.1:p.Glu728Lys | |
| ENST00000615445.4:c.2182G>A | ENSP00000479342.1:p.Glu728Lys | |
| NM_002843.3:c.2182G>A | NP_002834.3:p.Glu728Lys | |
| XM_011520249.1:c.2215G>A | XP_011518551.1:p.Glu739Lys | |
| XR_930883.1:n.2532G>A | ||
| XM_017018083.1:c.2260G>A | XP_016873572.1:p.Glu754Lys | |
| XM_017018084.1:c.2203G>A | XP_016873573.1:p.Glu735Lys | |
| XM_017018085.1:c.2134G>A | XP_016873574.1:p.Glu712Lys | |
| XR_930883.2:n.2591G>A | ||
| NM_002843.4:c.2182G>A MANE Select | NP_002834.3:p.Glu728Lys |