Linked Data
ClinVar Variation Id:
5854
ClinVar RCV Id:
RCV000006212
dbSNP Id:
rs797044435
PubMed:
PMID:15373768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108930963C>T , CM000664.2:g.108930963C>T | GRCh38 |
| NC_000002.11:g.109547419C>T , CM000664.1:g.109547419C>T | GRCh37 |
| NC_000002.10:g.108913851C>T | NCBI36 |
| NG_008257.1:g.63410G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.51+1G>A (EDAR) MANE Select | ENSP00000258443.2:n.51+1G>A | |
| ENST00000258443.6:c.51+1G>A (EDAR) | ENSP00000258443.2:n.51+1G>A | |
| ENST00000376651.1:c.51+1G>A (EDAR) | ENSP00000365839.1:n.51+1G>A | |
| ENST00000409271.5:c.51+1G>A (EDAR) | ENSP00000386371.1:n.51+1G>A | |
| NM_022336.3:c.51+1G>A (EDAR) | NP_071731.1:n.51+1G>A | |
| XM_006712204.1:c.51+1G>A (EDAR) | XP_006712267.1:n.51+1G>A | |
| XM_011510502.1:c.102+1G>A (EDAR) | XP_011508804.1:n.102+1G>A | |
| XM_011510503.1:c.102+1G>A (EDAR) | XP_011508805.1:n.102+1G>A | |
| XM_011510502.2:c.195+1G>A (EDAR) | XP_011508804.2:n.195+1G>A | |
| XM_011510503.2:c.195+1G>A (EDAR) | XP_011508805.2:n.195+1G>A | |
| XM_017004623.2:c.8370+157917C>T (RANBP2) | XP_016860112.1:n.8370+157917C>T | |
| NM_022336.4:c.51+1G>A (EDAR) MANE Select | NP_071731.1:n.51+1G>A |