Linked Data
ClinVar Variation Id:
330707
dbSNP Id:
rs781652310
ExAC:
2:109524435 G / A
gnomAD v2:
2-109524435-G-A
gnomAD v4:
2-108907979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907979G>A , CM000664.2:g.108907979G>A | GRCh38 |
| NC_000002.11:g.109524435G>A , CM000664.1:g.109524435G>A | GRCh37 |
| NC_000002.10:g.108890867G>A | NCBI36 |
| NG_008257.1:g.86394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.844C>T (EDAR) MANE Select | ENSP00000258443.2:p.Arg282Trp | |
| ENST00000258443.6:c.844C>T (EDAR) | ENSP00000258443.2:p.Arg282Trp | |
| ENST00000376651.1:c.940C>T (EDAR) | ENSP00000365839.1:p.Arg314Trp | |
| ENST00000409271.5:c.940C>T (EDAR) | ENSP00000386371.1:p.Arg314Trp | |
| NM_022336.3:c.844C>T (EDAR) | NP_071731.1:p.Arg282Trp | |
| XM_006712204.1:c.940C>T (EDAR) | XP_006712267.1:p.Arg314Trp | |
| XM_011510502.1:c.991C>T (EDAR) | XP_011508804.1:p.Arg331Trp | |
| XM_011510503.1:c.895C>T (EDAR) | XP_011508805.1:p.Arg299Trp | |
| XM_011510504.1:c.271C>T (EDAR) | XP_011508806.1:p.Arg91Trp | |
| XM_011510502.2:c.1084C>T (EDAR) | XP_011508804.2:p.Arg362Trp | |
| XM_011510503.2:c.988C>T (EDAR) | XP_011508805.2:p.Arg330Trp | |
| XM_017004623.2:c.8370+134933G>A (RANBP2) | XP_016860112.1:n.8370+134933G>A | |
| NM_022336.4:c.844C>T (EDAR) MANE Select | NP_071731.1:p.Arg282Trp |