Linked Data
ClinVar Variation Id:
929861
ClinVar RCV Id:
RCV001261886
dbSNP Id:
rs200267845
ExAC:
2:109524408 C / T
gnomAD v2:
2-109524408-C-T
gnomAD v3:
2-108907952-C-T
gnomAD v4:
2-108907952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907952C>T , CM000664.2:g.108907952C>T | GRCh38 |
| NC_000002.11:g.109524408C>T , CM000664.1:g.109524408C>T | GRCh37 |
| NC_000002.10:g.108890840C>T | NCBI36 |
| NG_008257.1:g.86421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.871G>A (EDAR) MANE Select | ENSP00000258443.2:p.Ala291Thr | |
| ENST00000258443.6:c.871G>A (EDAR) | ENSP00000258443.2:p.Ala291Thr | |
| ENST00000376651.1:c.967G>A (EDAR) | ENSP00000365839.1:p.Ala323Thr | |
| ENST00000409271.5:c.967G>A (EDAR) | ENSP00000386371.1:p.Ala323Thr | |
| NM_022336.3:c.871G>A (EDAR) | NP_071731.1:p.Ala291Thr | |
| XM_006712204.1:c.967G>A (EDAR) | XP_006712267.1:p.Ala323Thr | |
| XM_011510502.1:c.1018G>A (EDAR) | XP_011508804.1:p.Ala340Thr | |
| XM_011510503.1:c.922G>A (EDAR) | XP_011508805.1:p.Ala308Thr | |
| XM_011510504.1:c.298G>A (EDAR) | XP_011508806.1:p.Ala100Thr | |
| XM_011510502.2:c.1111G>A (EDAR) | XP_011508804.2:p.Ala371Thr | |
| XM_011510503.2:c.1015G>A (EDAR) | XP_011508805.2:p.Ala339Thr | |
| XM_017004623.2:c.8370+134906C>T (RANBP2) | XP_016860112.1:n.8370+134906C>T | |
| NM_022336.4:c.871G>A (EDAR) MANE Select | NP_071731.1:p.Ala291Thr |