Linked Data
ClinVar Variation Id:
463882
dbSNP Id:
rs3749098
ExAC:
2:109524466 A / G
gnomAD v2:
2-109524466-A-G
gnomAD v3:
2-108908010-A-G
gnomAD v4:
2-108908010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108908010A>G , CM000664.2:g.108908010A>G | GRCh38 |
| NC_000002.11:g.109524466A>G , CM000664.1:g.109524466A>G | GRCh37 |
| NC_000002.10:g.108890898A>G | NCBI36 |
| NG_008257.1:g.86363T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.813T>C (EDAR) MANE Select | ENSP00000258443.2:p.Asp271= | |
| ENST00000258443.6:c.813T>C (EDAR) | ENSP00000258443.2:p.Asp271= | |
| ENST00000376651.1:c.909T>C (EDAR) | ENSP00000365839.1:p.Asp303= | |
| ENST00000409271.5:c.909T>C (EDAR) | ENSP00000386371.1:p.Asp303= | |
| NM_022336.3:c.813T>C (EDAR) | NP_071731.1:p.Asp271= | |
| XM_006712204.1:c.909T>C (EDAR) | XP_006712267.1:p.Asp303= | |
| XM_011510502.1:c.960T>C (EDAR) | XP_011508804.1:p.Asp320= | |
| XM_011510503.1:c.864T>C (EDAR) | XP_011508805.1:p.Asp288= | |
| XM_011510504.1:c.240T>C (EDAR) | XP_011508806.1:p.Asp80= | |
| XM_011510502.2:c.1053T>C (EDAR) | XP_011508804.2:p.Asp351= | |
| XM_011510503.2:c.957T>C (EDAR) | XP_011508805.2:p.Asp319= | |
| XM_017004623.2:c.8370+134964A>G (RANBP2) | XP_016860112.1:n.8370+134964A>G | |
| NM_022336.4:c.813T>C (EDAR) MANE Select | NP_071731.1:p.Asp271= |