Linked Data
ClinVar Variation Id:
449014
dbSNP Id:
rs199544410
ExAC:
2:109524376 G / T
gnomAD v2:
2-109524376-G-T
gnomAD v3:
2-108907920-G-T
gnomAD v4:
2-108907920-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907920G>T , CM000664.2:g.108907920G>T | GRCh38 |
| NC_000002.11:g.109524376G>T , CM000664.1:g.109524376G>T | GRCh37 |
| NC_000002.10:g.108890808G>T | NCBI36 |
| NG_008257.1:g.86453C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.903C>A (EDAR) MANE Select | ENSP00000258443.2:p.Cys301Ter | |
| ENST00000258443.6:c.903C>A (EDAR) | ENSP00000258443.2:p.Cys301Ter | |
| ENST00000376651.1:c.999C>A (EDAR) | ENSP00000365839.1:p.Cys333Ter | |
| ENST00000409271.5:c.999C>A (EDAR) | ENSP00000386371.1:p.Cys333Ter | |
| NM_022336.3:c.903C>A (EDAR) | NP_071731.1:p.Cys301Ter | |
| XM_006712204.1:c.999C>A (EDAR) | XP_006712267.1:p.Cys333Ter | |
| XM_011510502.1:c.1050C>A (EDAR) | XP_011508804.1:p.Cys350Ter | |
| XM_011510503.1:c.954C>A (EDAR) | XP_011508805.1:p.Cys318Ter | |
| XM_011510504.1:c.330C>A (EDAR) | XP_011508806.1:p.Cys110Ter | |
| XM_011510502.2:c.1143C>A (EDAR) | XP_011508804.2:p.Cys381Ter | |
| XM_011510503.2:c.1047C>A (EDAR) | XP_011508805.2:p.Cys349Ter | |
| XM_017004623.2:c.8370+134874G>T (RANBP2) | XP_016860112.1:n.8370+134874G>T | |
| NM_022336.4:c.903C>A (EDAR) MANE Select | NP_071731.1:p.Cys301Ter |