Linked Data
ClinVar Variation Id:
5858
dbSNP Id:
rs3827760
ExAC:
2:109513601 A / G
gnomAD v2:
2-109513601-A-G
gnomAD v3:
2-108897145-A-G
gnomAD v4:
2-108897145-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897145A>G , CM000664.2:g.108897145A>G | GRCh38 |
| NC_000002.11:g.109513601A>G , CM000664.1:g.109513601A>G | GRCh37 |
| NC_000002.10:g.108880033A>G | NCBI36 |
| NG_008257.1:g.97228T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.1109T>C (EDAR) MANE Select | ENSP00000258443.2:p.Val370Ala | |
| ENST00000258443.6:c.1109T>C (EDAR) | ENSP00000258443.2:p.Val370Ala | |
| ENST00000376651.1:c.1205T>C (EDAR) | ENSP00000365839.1:p.Val402Ala | |
| ENST00000409271.5:c.1205T>C (EDAR) | ENSP00000386371.1:p.Val402Ala | |
| NM_022336.3:c.1109T>C (EDAR) | NP_071731.1:p.Val370Ala | |
| XM_006712204.1:c.1205T>C (EDAR) | XP_006712267.1:p.Val402Ala | |
| XM_011510502.1:c.1256T>C (EDAR) | XP_011508804.1:p.Val419Ala | |
| XM_011510503.1:c.1160T>C (EDAR) | XP_011508805.1:p.Val387Ala | |
| XM_011510504.1:c.536T>C (EDAR) | XP_011508806.1:p.Val179Ala | |
| XM_011510502.2:c.1349T>C (EDAR) | XP_011508804.2:p.Val450Ala | |
| XM_011510503.2:c.1253T>C (EDAR) | XP_011508805.2:p.Val418Ala | |
| XM_017004623.2:c.8370+124099A>G (RANBP2) | XP_016860112.1:n.8370+124099A>G | |
| NM_022336.4:c.1109T>C (EDAR) MANE Select | NP_071731.1:p.Val370Ala |