COSMIC:
COSM3766485 (not active)
COSM3766486 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99097686 (EAS)
Genomes Max Group AF
0.97386962 (EAS)
Exomes Max Group AF
0.99075446 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108910513G>A , CM000664.2:g.108910513G>A | GRCh38 |
| NC_000002.11:g.109526969G>A , CM000664.1:g.109526969G>A | GRCh37 |
| NC_000002.10:g.108893401G>A | NCBI36 |
| NG_008257.1:g.83860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.750C>T (EDAR) MANE Select | ENSP00000258443.2:p.Ser250= | |
| ENST00000258443.6:c.750C>T (EDAR) | ENSP00000258443.2:p.Ser250= | |
| ENST00000376651.1:c.846C>T (EDAR) | ENSP00000365839.1:p.Ser282= | |
| ENST00000409271.5:c.846C>T (EDAR) | ENSP00000386371.1:p.Ser282= | |
| NM_022336.3:c.750C>T (EDAR) | NP_071731.1:p.Ser250= | |
| XM_006712204.1:c.846C>T (EDAR) | XP_006712267.1:p.Ser282= | |
| XM_011510502.1:c.897C>T (EDAR) | XP_011508804.1:p.Ser299= | |
| XM_011510503.1:c.801C>T (EDAR) | XP_011508805.1:p.Ser267= | |
| XM_011510504.1:c.177C>T (EDAR) | XP_011508806.1:p.Ser59= | |
| XM_011510502.2:c.990C>T (EDAR) | XP_011508804.2:p.Ser330= | |
| XM_011510503.2:c.894C>T (EDAR) | XP_011508805.2:p.Ser298= | |
| XM_017004623.2:c.8370+137467G>A (RANBP2) | XP_016860112.1:n.8370+137467G>A | |
| NM_022336.4:c.750C>T (EDAR) MANE Select | NP_071731.1:p.Ser250= |