Linked Data
ClinVar Variation Id:
2922761
ClinVar RCV Id:
RCV003787927
dbSNP Id:
rs1431108613
gnomAD v2:
2-109513505-C-T
gnomAD v4:
2-108897049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897049C>T , CM000664.2:g.108897049C>T | GRCh38 |
| NC_000002.11:g.109513505C>T , CM000664.1:g.109513505C>T | GRCh37 |
| NC_000002.10:g.108879937C>T | NCBI36 |
| NG_008257.1:g.97324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1205G>A (EDAR) MANE Select | ENSP00000258443.2:p.Ser402Asn | |
| ENST00000258443.6:c.1205G>A (EDAR) | ENSP00000258443.2:p.Ser402Asn | |
| ENST00000376651.1:c.1301G>A (EDAR) | ENSP00000365839.1:p.Ser434Asn | |
| ENST00000409271.5:c.1301G>A (EDAR) | ENSP00000386371.1:p.Ser434Asn | |
| NM_022336.3:c.1205G>A (EDAR) | NP_071731.1:p.Ser402Asn | |
| XM_006712204.1:c.1301G>A (EDAR) | XP_006712267.1:p.Ser434Asn | |
| XM_011510502.1:c.1352G>A (EDAR) | XP_011508804.1:p.Ser451Asn | |
| XM_011510503.1:c.1256G>A (EDAR) | XP_011508805.1:p.Ser419Asn | |
| XM_011510504.1:c.632G>A (EDAR) | XP_011508806.1:p.Ser211Asn | |
| XM_011510502.2:c.1445G>A (EDAR) | XP_011508804.2:p.Ser482Asn | |
| XM_011510503.2:c.1349G>A (EDAR) | XP_011508805.2:p.Ser450Asn | |
| XM_017004623.2:c.8370+124003C>T (RANBP2) | XP_016860112.1:n.8370+124003C>T | |
| NM_022336.4:c.1205G>A (EDAR) MANE Select | NP_071731.1:p.Ser402Asn |