Linked Data
dbSNP Id:
rs1350259361
gnomAD v2:
2-109524474-C-T
gnomAD v3:
2-108908018-C-T
gnomAD v4:
2-108908018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108908018C>T , CM000664.2:g.108908018C>T | GRCh38 |
| NC_000002.11:g.109524474C>T , CM000664.1:g.109524474C>T | GRCh37 |
| NC_000002.10:g.108890906C>T | NCBI36 |
| NG_008257.1:g.86355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.805G>A (EDAR) MANE Select | ENSP00000258443.2:p.Glu269Lys | |
| ENST00000258443.6:c.805G>A (EDAR) | ENSP00000258443.2:p.Glu269Lys | |
| ENST00000376651.1:c.901G>A (EDAR) | ENSP00000365839.1:p.Glu301Lys | |
| ENST00000409271.5:c.901G>A (EDAR) | ENSP00000386371.1:p.Glu301Lys | |
| NM_022336.3:c.805G>A (EDAR) | NP_071731.1:p.Glu269Lys | |
| XM_006712204.1:c.901G>A (EDAR) | XP_006712267.1:p.Glu301Lys | |
| XM_011510502.1:c.952G>A (EDAR) | XP_011508804.1:p.Glu318Lys | |
| XM_011510503.1:c.856G>A (EDAR) | XP_011508805.1:p.Glu286Lys | |
| XM_011510504.1:c.232G>A (EDAR) | XP_011508806.1:p.Glu78Lys | |
| XM_011510502.2:c.1045G>A (EDAR) | XP_011508804.2:p.Glu349Lys | |
| XM_011510503.2:c.949G>A (EDAR) | XP_011508805.2:p.Glu317Lys | |
| XM_017004623.2:c.8370+134972C>T (RANBP2) | XP_016860112.1:n.8370+134972C>T | |
| NM_022336.4:c.805G>A (EDAR) MANE Select | NP_071731.1:p.Glu269Lys |