Linked Data
ClinVar Variation Id:
330716
dbSNP Id:
rs569682476
gnomAD v2:
2-109605586-A-G
gnomAD v3:
2-108989130-A-G
gnomAD v4:
2-108989130-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108989130A>G , CM000664.2:g.108989130A>G | GRCh38 |
| NC_000002.11:g.109605586A>G , CM000664.1:g.109605586A>G | GRCh37 |
| NC_000002.10:g.108972018A>G | NCBI36 |
| NG_008257.1:g.5243T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.-189T>C (EDAR) MANE Select | ENSP00000258443.2:n.-189T>C | |
| ENST00000258443.6:c.-189T>C (EDAR) | ENSP00000258443.2:n.-189T>C | |
| ENST00000376651.1:c.-189T>C (EDAR) | ENSP00000365839.1:n.-189T>C | |
| ENST00000409271.5:c.-305T>C (EDAR) | ENSP00000386371.1:n.-305T>C | |
| NM_022336.3:c.-189T>C (EDAR) | NP_071731.1:n.-189T>C | |
| XM_006712204.1:c.-189T>C (EDAR) | XP_006712267.1:n.-189T>C | |
| XM_017004623.2:c.8370+216084A>G (RANBP2) | XP_016860112.1:n.8370+216084A>G | |
| NM_022336.4:c.-189T>C (EDAR) MANE Select | NP_071731.1:n.-189T>C |