COSMIC:
COSM5505134 (not active)
COSM5505135 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02902549 (EAS)
Genomes Max Group AF
0.01918842 (SAS)
Exomes Max Group AF
0.03070073 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907953G>A , CM000664.2:g.108907953G>A | GRCh38 |
| NC_000002.11:g.109524409G>A , CM000664.1:g.109524409G>A | GRCh37 |
| NC_000002.10:g.108890841G>A | NCBI36 |
| NG_008257.1:g.86420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.870C>T (EDAR) MANE Select | ENSP00000258443.2:p.Pro290= | |
| ENST00000258443.6:c.870C>T (EDAR) | ENSP00000258443.2:p.Pro290= | |
| ENST00000376651.1:c.966C>T (EDAR) | ENSP00000365839.1:p.Pro322= | |
| ENST00000409271.5:c.966C>T (EDAR) | ENSP00000386371.1:p.Pro322= | |
| NM_022336.3:c.870C>T (EDAR) | NP_071731.1:p.Pro290= | |
| XM_006712204.1:c.966C>T (EDAR) | XP_006712267.1:p.Pro322= | |
| XM_011510502.1:c.1017C>T (EDAR) | XP_011508804.1:p.Pro339= | |
| XM_011510503.1:c.921C>T (EDAR) | XP_011508805.1:p.Pro307= | |
| XM_011510504.1:c.297C>T (EDAR) | XP_011508806.1:p.Pro99= | |
| XM_011510502.2:c.1110C>T (EDAR) | XP_011508804.2:p.Pro370= | |
| XM_011510503.2:c.1014C>T (EDAR) | XP_011508805.2:p.Pro338= | |
| XM_017004623.2:c.8370+134907G>A (RANBP2) | XP_016860112.1:n.8370+134907G>A | |
| NM_022336.4:c.870C>T (EDAR) MANE Select | NP_071731.1:p.Pro290= |