Linked Data
ClinVar Variation Id:
5856
ClinVar RCV Id:
RCV000006214
dbSNP Id:
rs121908455
ExAC:
2:109545681 T / G
gnomAD v2:
2-109545681-T-G
gnomAD v4:
2-108929225-T-G
PubMed:
PMID:18231121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108929225T>G , CM000664.2:g.108929225T>G | GRCh38 |
| NC_000002.11:g.109545681T>G , CM000664.1:g.109545681T>G | GRCh37 |
| NC_000002.10:g.108912113T>G | NCBI36 |
| NG_008257.1:g.65148A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.329A>C (EDAR) MANE Select | ENSP00000258443.2:p.Asp110Ala | |
| ENST00000258443.6:c.329A>C (EDAR) | ENSP00000258443.2:p.Asp110Ala | |
| ENST00000376651.1:c.329A>C (EDAR) | ENSP00000365839.1:p.Asp110Ala | |
| ENST00000409271.5:c.329A>C (EDAR) | ENSP00000386371.1:p.Asp110Ala | |
| NM_022336.3:c.329A>C (EDAR) | NP_071731.1:p.Asp110Ala | |
| XM_006712204.1:c.329A>C (EDAR) | XP_006712267.1:p.Asp110Ala | |
| XM_011510502.1:c.380A>C (EDAR) | XP_011508804.1:p.Asp127Ala | |
| XM_011510503.1:c.380A>C (EDAR) | XP_011508805.1:p.Asp127Ala | |
| XM_011510502.2:c.473A>C (EDAR) | XP_011508804.2:p.Asp158Ala | |
| XM_011510503.2:c.473A>C (EDAR) | XP_011508805.2:p.Asp158Ala | |
| XM_017004623.2:c.8370+156179T>G (RANBP2) | XP_016860112.1:n.8370+156179T>G | |
| NM_022336.4:c.329A>C (EDAR) MANE Select | NP_071731.1:p.Asp110Ala |