Linked Data
dbSNP Id:
rs748083346
ExAC:
2:109545667 G / C
gnomAD v2:
2-109545667-G-C
gnomAD v3:
2-108929211-G-C
gnomAD v4:
2-108929211-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108929211G>C , CM000664.2:g.108929211G>C | GRCh38 |
| NC_000002.11:g.109545667G>C , CM000664.1:g.109545667G>C | GRCh37 |
| NC_000002.10:g.108912099G>C | NCBI36 |
| NG_008257.1:g.65162C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.343C>G (EDAR) MANE Select | ENSP00000258443.2:p.Pro115Ala | |
| ENST00000258443.6:c.343C>G (EDAR) | ENSP00000258443.2:p.Pro115Ala | |
| ENST00000376651.1:c.343C>G (EDAR) | ENSP00000365839.1:p.Pro115Ala | |
| ENST00000409271.5:c.343C>G (EDAR) | ENSP00000386371.1:p.Pro115Ala | |
| NM_022336.3:c.343C>G (EDAR) | NP_071731.1:p.Pro115Ala | |
| XM_006712204.1:c.343C>G (EDAR) | XP_006712267.1:p.Pro115Ala | |
| XM_011510502.1:c.394C>G (EDAR) | XP_011508804.1:p.Pro132Ala | |
| XM_011510503.1:c.394C>G (EDAR) | XP_011508805.1:p.Pro132Ala | |
| XM_011510502.2:c.487C>G (EDAR) | XP_011508804.2:p.Pro163Ala | |
| XM_011510503.2:c.487C>G (EDAR) | XP_011508805.2:p.Pro163Ala | |
| XM_017004623.2:c.8370+156165G>C (RANBP2) | XP_016860112.1:n.8370+156165G>C | |
| NM_022336.4:c.343C>G (EDAR) MANE Select | NP_071731.1:p.Pro115Ala |