Linked Data
ClinVar Variation Id:
5855
ClinVar RCV Id:
RCV000006213
dbSNP Id:
rs121908454
ExAC:
2:109513586 C / T
gnomAD v2:
2-109513586-C-T
gnomAD v3:
2-108897130-C-T
gnomAD v4:
2-108897130-C-T
PubMed:
PMID:15373768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897130C>T , CM000664.2:g.108897130C>T | GRCh38 |
| NC_000002.11:g.109513586C>T , CM000664.1:g.109513586C>T | GRCh37 |
| NC_000002.10:g.108880018C>T | NCBI36 |
| NG_008257.1:g.97243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1124G>A (EDAR) MANE Select | ENSP00000258443.2:p.Arg375His | |
| ENST00000258443.6:c.1124G>A (EDAR) | ENSP00000258443.2:p.Arg375His | |
| ENST00000376651.1:c.1220G>A (EDAR) | ENSP00000365839.1:p.Arg407His | |
| ENST00000409271.5:c.1220G>A (EDAR) | ENSP00000386371.1:p.Arg407His | |
| NM_022336.3:c.1124G>A (EDAR) | NP_071731.1:p.Arg375His | |
| XM_006712204.1:c.1220G>A (EDAR) | XP_006712267.1:p.Arg407His | |
| XM_011510502.1:c.1271G>A (EDAR) | XP_011508804.1:p.Arg424His | |
| XM_011510503.1:c.1175G>A (EDAR) | XP_011508805.1:p.Arg392His | |
| XM_011510504.1:c.551G>A (EDAR) | XP_011508806.1:p.Arg184His | |
| XM_011510502.2:c.1364G>A (EDAR) | XP_011508804.2:p.Arg455His | |
| XM_011510503.2:c.1268G>A (EDAR) | XP_011508805.2:p.Arg423His | |
| XM_017004623.2:c.8370+124084C>T (RANBP2) | XP_016860112.1:n.8370+124084C>T | |
| NM_022336.4:c.1124G>A (EDAR) MANE Select | NP_071731.1:p.Arg375His |