Linked Data
ClinVar Variation Id:
5857
ClinVar RCV Id:
RCV000006215
dbSNP Id:
rs121908456
gnomAD v4:
2-108897194-C-A
PubMed:
PMID:18231121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897194C>A , CM000664.2:g.108897194C>A | GRCh38 |
| NC_000002.11:g.109513650C>A , CM000664.1:g.109513650C>A | GRCh37 |
| NC_000002.10:g.108880082C>A | NCBI36 |
| NG_008257.1:g.97179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1060G>T (EDAR) MANE Select | ENSP00000258443.2:p.Glu354Ter | |
| ENST00000258443.6:c.1060G>T (EDAR) | ENSP00000258443.2:p.Glu354Ter | |
| ENST00000376651.1:c.1156G>T (EDAR) | ENSP00000365839.1:p.Glu386Ter | |
| ENST00000409271.5:c.1156G>T (EDAR) | ENSP00000386371.1:p.Glu386Ter | |
| NM_022336.3:c.1060G>T (EDAR) | NP_071731.1:p.Glu354Ter | |
| XM_006712204.1:c.1156G>T (EDAR) | XP_006712267.1:p.Glu386Ter | |
| XM_011510502.1:c.1207G>T (EDAR) | XP_011508804.1:p.Glu403Ter | |
| XM_011510503.1:c.1111G>T (EDAR) | XP_011508805.1:p.Glu371Ter | |
| XM_011510504.1:c.487G>T (EDAR) | XP_011508806.1:p.Glu163Ter | |
| XM_011510502.2:c.1300G>T (EDAR) | XP_011508804.2:p.Glu434Ter | |
| XM_011510503.2:c.1204G>T (EDAR) | XP_011508805.2:p.Glu402Ter | |
| XM_017004623.2:c.8370+124148C>A (RANBP2) | XP_016860112.1:n.8370+124148C>A | |
| NM_022336.4:c.1060G>T (EDAR) MANE Select | NP_071731.1:p.Glu354Ter |