Linked Data
ClinVar Variation Id:
261573
dbSNP Id:
rs79648056
ExAC:
2:109524457 G / T
gnomAD v2:
2-109524457-G-T
gnomAD v3:
2-108908001-G-T
gnomAD v4:
2-108908001-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108908001G>T , CM000664.2:g.108908001G>T | GRCh38 |
| NC_000002.11:g.109524457G>T , CM000664.1:g.109524457G>T | GRCh37 |
| NC_000002.10:g.108890889G>T | NCBI36 |
| NG_008257.1:g.86372C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.822C>A (EDAR) MANE Select | ENSP00000258443.2:p.Ser274= | |
| ENST00000258443.6:c.822C>A (EDAR) | ENSP00000258443.2:p.Ser274= | |
| ENST00000376651.1:c.918C>A (EDAR) | ENSP00000365839.1:p.Ser306= | |
| ENST00000409271.5:c.918C>A (EDAR) | ENSP00000386371.1:p.Ser306= | |
| NM_022336.3:c.822C>A (EDAR) | NP_071731.1:p.Ser274= | |
| XM_006712204.1:c.918C>A (EDAR) | XP_006712267.1:p.Ser306= | |
| XM_011510502.1:c.969C>A (EDAR) | XP_011508804.1:p.Ser323= | |
| XM_011510503.1:c.873C>A (EDAR) | XP_011508805.1:p.Ser291= | |
| XM_011510504.1:c.249C>A (EDAR) | XP_011508806.1:p.Ser83= | |
| XM_011510502.2:c.1062C>A (EDAR) | XP_011508804.2:p.Ser354= | |
| XM_011510503.2:c.966C>A (EDAR) | XP_011508805.2:p.Ser322= | |
| XM_017004623.2:c.8370+134955G>T (RANBP2) | XP_016860112.1:n.8370+134955G>T | |
| NM_022336.4:c.822C>A (EDAR) MANE Select | NP_071731.1:p.Ser274= |