Linked Data
ClinVar Variation Id:
265114
dbSNP Id:
rs370972367
ExAC:
2:109529200 C / T
gnomAD v2:
2-109529200-C-T
gnomAD v3:
2-108912744-C-T
gnomAD v4:
2-108912744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108912744C>T , CM000664.2:g.108912744C>T | GRCh38 |
| NC_000002.11:g.109529200C>T , CM000664.1:g.109529200C>T | GRCh37 |
| NC_000002.10:g.108895632C>T | NCBI36 |
| NG_008257.1:g.81629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.463G>A (EDAR) MANE Select | ENSP00000258443.2:p.Ala155Thr | |
| ENST00000258443.6:c.463G>A (EDAR) | ENSP00000258443.2:p.Ala155Thr | |
| ENST00000376651.1:c.463G>A (EDAR) | ENSP00000365839.1:p.Ala155Thr | |
| ENST00000409271.5:c.463G>A (EDAR) | ENSP00000386371.1:p.Ala155Thr | |
| NM_022336.3:c.463G>A (EDAR) | NP_071731.1:p.Ala155Thr | |
| XM_006712204.1:c.463G>A (EDAR) | XP_006712267.1:p.Ala155Thr | |
| XM_011510502.1:c.514G>A (EDAR) | XP_011508804.1:p.Ala172Thr | |
| XM_011510503.1:c.514G>A (EDAR) | XP_011508805.1:p.Ala172Thr | |
| XM_011510504.1:c.-111G>A (EDAR) | XP_011508806.1:n.-111G>A | |
| XM_011510502.2:c.607G>A (EDAR) | XP_011508804.2:p.Ala203Thr | |
| XM_011510503.2:c.607G>A (EDAR) | XP_011508805.2:p.Ala203Thr | |
| XM_017004623.2:c.8370+139698C>T (RANBP2) | XP_016860112.1:n.8370+139698C>T | |
| NM_022336.4:c.463G>A (EDAR) MANE Select | NP_071731.1:p.Ala155Thr |