Linked Data
ClinVar Variation Id:
504887
ClinVar RCV Id:
RCV000613299
dbSNP Id:
rs1553445945
gnomAD v3:
2-108912677-C-T
gnomAD v4:
2-108912677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108912677C>T , CM000664.2:g.108912677C>T | GRCh38 |
| NC_000002.11:g.109529133C>T , CM000664.1:g.109529133C>T | GRCh37 |
| NC_000002.10:g.108895565C>T | NCBI36 |
| NG_008257.1:g.81696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.529+1G>A (EDAR) MANE Select | ENSP00000258443.2:n.529+1G>A | |
| ENST00000258443.6:c.529+1G>A (EDAR) | ENSP00000258443.2:n.529+1G>A | |
| ENST00000376651.1:c.529+1G>A (EDAR) | ENSP00000365839.1:n.529+1G>A | |
| ENST00000409271.5:c.529+1G>A (EDAR) | ENSP00000386371.1:n.529+1G>A | |
| NM_022336.3:c.529+1G>A (EDAR) | NP_071731.1:n.529+1G>A | |
| XM_006712204.1:c.529+1G>A (EDAR) | XP_006712267.1:n.529+1G>A | |
| XM_011510502.1:c.580+1G>A (EDAR) | XP_011508804.1:n.580+1G>A | |
| XM_011510503.1:c.580+1G>A (EDAR) | XP_011508805.1:n.580+1G>A | |
| XM_011510504.1:c.-45+1G>A (EDAR) | XP_011508806.1:n.-45+1G>A | |
| XM_011510502.2:c.673+1G>A (EDAR) | XP_011508804.2:n.673+1G>A | |
| XM_011510503.2:c.673+1G>A (EDAR) | XP_011508805.2:n.673+1G>A | |
| XM_017004623.2:c.8370+139631C>T (RANBP2) | XP_016860112.1:n.8370+139631C>T | |
| NM_022336.4:c.529+1G>A (EDAR) MANE Select | NP_071731.1:n.529+1G>A |