gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00445649 (EAS)
Genomes Max Group AF
0.00618407 (EAS)
Exomes Max Group AF
0.00404025 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907863G>A , CM000664.2:g.108907863G>A | GRCh38 |
| NC_000002.11:g.109524319G>A , CM000664.1:g.109524319G>A | GRCh37 |
| NC_000002.10:g.108890751G>A | NCBI36 |
| NG_008257.1:g.86510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.960C>T (EDAR) MANE Select | ENSP00000258443.2:p.Ala320= | |
| ENST00000258443.6:c.960C>T (EDAR) | ENSP00000258443.2:p.Ala320= | |
| ENST00000376651.1:c.1056C>T (EDAR) | ENSP00000365839.1:p.Ala352= | |
| ENST00000409271.5:c.1056C>T (EDAR) | ENSP00000386371.1:p.Ala352= | |
| NM_022336.3:c.960C>T (EDAR) | NP_071731.1:p.Ala320= | |
| XM_006712204.1:c.1056C>T (EDAR) | XP_006712267.1:p.Ala352= | |
| XM_011510502.1:c.1107C>T (EDAR) | XP_011508804.1:p.Ala369= | |
| XM_011510503.1:c.1011C>T (EDAR) | XP_011508805.1:p.Ala337= | |
| XM_011510504.1:c.387C>T (EDAR) | XP_011508806.1:p.Ala129= | |
| XM_011510502.2:c.1200C>T (EDAR) | XP_011508804.2:p.Ala400= | |
| XM_011510503.2:c.1104C>T (EDAR) | XP_011508805.2:p.Ala368= | |
| XM_017004623.2:c.8370+134817G>A (RANBP2) | XP_016860112.1:n.8370+134817G>A | |
| NM_022336.4:c.960C>T (EDAR) MANE Select | NP_071731.1:p.Ala320= |