Linked Data
ClinVar Variation Id:
1234024
ClinVar RCV Id:
RCV001619206
dbSNP Id:
rs142724949
ExAC:
2:109524517 G / T
gnomAD v2:
2-109524517-G-T
gnomAD v3:
2-108908061-G-T
gnomAD v4:
2-108908061-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108908061G>T , CM000664.2:g.108908061G>T | GRCh38 |
| NC_000002.11:g.109524517G>T , CM000664.1:g.109524517G>T | GRCh37 |
| NC_000002.10:g.108890949G>T | NCBI36 |
| NG_008257.1:g.86312C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.804-42C>A (EDAR) MANE Select | ENSP00000258443.2:n.804-42C>A | |
| ENST00000258443.6:c.804-42C>A (EDAR) | ENSP00000258443.2:n.804-42C>A | |
| ENST00000376651.1:c.900-42C>A (EDAR) | ENSP00000365839.1:n.900-42C>A | |
| ENST00000409271.5:c.900-42C>A (EDAR) | ENSP00000386371.1:n.900-42C>A | |
| NM_022336.3:c.804-42C>A (EDAR) | NP_071731.1:n.804-42C>A | |
| XM_006712204.1:c.900-42C>A (EDAR) | XP_006712267.1:n.900-42C>A | |
| XM_011510502.1:c.951-42C>A (EDAR) | XP_011508804.1:n.951-42C>A | |
| XM_011510503.1:c.855-42C>A (EDAR) | XP_011508805.1:n.855-42C>A | |
| XM_011510504.1:c.231-42C>A (EDAR) | XP_011508806.1:n.231-42C>A | |
| XM_011510502.2:c.1044-42C>A (EDAR) | XP_011508804.2:n.1044-42C>A | |
| XM_011510503.2:c.948-42C>A (EDAR) | XP_011508805.2:n.948-42C>A | |
| XM_017004623.2:c.8370+135015G>T (RANBP2) | XP_016860112.1:n.8370+135015G>T | |
| NM_022336.4:c.804-42C>A (EDAR) MANE Select | NP_071731.1:n.804-42C>A |