Linked Data
dbSNP Id:
rs751763234
ExAC:
2:109513511 C / T
gnomAD v2:
2-109513511-C-T
gnomAD v3:
2-108897055-C-T
gnomAD v4:
2-108897055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897055C>T , CM000664.2:g.108897055C>T | GRCh38 |
| NC_000002.11:g.109513511C>T , CM000664.1:g.109513511C>T | GRCh37 |
| NC_000002.10:g.108879943C>T | NCBI36 |
| NG_008257.1:g.97318G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.1199G>A (EDAR) MANE Select | ENSP00000258443.2:p.Arg400His | |
| ENST00000258443.6:c.1199G>A (EDAR) | ENSP00000258443.2:p.Arg400His | |
| ENST00000376651.1:c.1295G>A (EDAR) | ENSP00000365839.1:p.Arg432His | |
| ENST00000409271.5:c.1295G>A (EDAR) | ENSP00000386371.1:p.Arg432His | |
| NM_022336.3:c.1199G>A (EDAR) | NP_071731.1:p.Arg400His | |
| XM_006712204.1:c.1295G>A (EDAR) | XP_006712267.1:p.Arg432His | |
| XM_011510502.1:c.1346G>A (EDAR) | XP_011508804.1:p.Arg449His | |
| XM_011510503.1:c.1250G>A (EDAR) | XP_011508805.1:p.Arg417His | |
| XM_011510504.1:c.626G>A (EDAR) | XP_011508806.1:p.Arg209His | |
| XM_011510502.2:c.1439G>A (EDAR) | XP_011508804.2:p.Arg480His | |
| XM_011510503.2:c.1343G>A (EDAR) | XP_011508805.2:p.Arg448His | |
| XM_017004623.2:c.8370+124009C>T (RANBP2) | XP_016860112.1:n.8370+124009C>T | |
| NM_022336.4:c.1199G>A (EDAR) MANE Select | NP_071731.1:p.Arg400His |