gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897045C>T , CM000664.2:g.108897045C>T | GRCh38 |
| NC_000002.11:g.109513501C>T , CM000664.1:g.109513501C>T | GRCh37 |
| NC_000002.10:g.108879933C>T | NCBI36 |
| NG_008257.1:g.97328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1209G>A (EDAR) MANE Select | ENSP00000258443.2:p.Thr403= | |
| ENST00000258443.6:c.1209G>A (EDAR) | ENSP00000258443.2:p.Thr403= | |
| ENST00000376651.1:c.1305G>A (EDAR) | ENSP00000365839.1:p.Thr435= | |
| ENST00000409271.5:c.1305G>A (EDAR) | ENSP00000386371.1:p.Thr435= | |
| NM_022336.3:c.1209G>A (EDAR) | NP_071731.1:p.Thr403= | |
| XM_006712204.1:c.1305G>A (EDAR) | XP_006712267.1:p.Thr435= | |
| XM_011510502.1:c.1356G>A (EDAR) | XP_011508804.1:p.Thr452= | |
| XM_011510503.1:c.1260G>A (EDAR) | XP_011508805.1:p.Thr420= | |
| XM_011510504.1:c.636G>A (EDAR) | XP_011508806.1:p.Thr212= | |
| XM_011510502.2:c.1449G>A (EDAR) | XP_011508804.2:p.Thr483= | |
| XM_011510503.2:c.1353G>A (EDAR) | XP_011508805.2:p.Thr451= | |
| XM_017004623.2:c.8370+123999C>T (RANBP2) | XP_016860112.1:n.8370+123999C>T | |
| NM_022336.4:c.1209G>A (EDAR) MANE Select | NP_071731.1:p.Thr403= |