Linked Data
dbSNP Id:
rs775610837
ExAC:
2:109524384 C / G
gnomAD v2:
2-109524384-C-G
gnomAD v4:
2-108907928-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907928C>G , CM000664.2:g.108907928C>G | GRCh38 |
| NC_000002.11:g.109524384C>G , CM000664.1:g.109524384C>G | GRCh37 |
| NC_000002.10:g.108890816C>G | NCBI36 |
| NG_008257.1:g.86445G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.895G>C (EDAR) MANE Select | ENSP00000258443.2:p.Glu299Gln | |
| ENST00000258443.6:c.895G>C (EDAR) | ENSP00000258443.2:p.Glu299Gln | |
| ENST00000376651.1:c.991G>C (EDAR) | ENSP00000365839.1:p.Glu331Gln | |
| ENST00000409271.5:c.991G>C (EDAR) | ENSP00000386371.1:p.Glu331Gln | |
| NM_022336.3:c.895G>C (EDAR) | NP_071731.1:p.Glu299Gln | |
| XM_006712204.1:c.991G>C (EDAR) | XP_006712267.1:p.Glu331Gln | |
| XM_011510502.1:c.1042G>C (EDAR) | XP_011508804.1:p.Glu348Gln | |
| XM_011510503.1:c.946G>C (EDAR) | XP_011508805.1:p.Glu316Gln | |
| XM_011510504.1:c.322G>C (EDAR) | XP_011508806.1:p.Glu108Gln | |
| XM_011510502.2:c.1135G>C (EDAR) | XP_011508804.2:p.Glu379Gln | |
| XM_011510503.2:c.1039G>C (EDAR) | XP_011508805.2:p.Glu347Gln | |
| XM_017004623.2:c.8370+134882C>G (RANBP2) | XP_016860112.1:n.8370+134882C>G | |
| NM_022336.4:c.895G>C (EDAR) MANE Select | NP_071731.1:p.Glu299Gln |