Linked Data
dbSNP Id:
rs747408545
ExAC:
2:109524327 T / C
gnomAD v2:
2-109524327-T-C
gnomAD v4:
2-108907871-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907871T>C , CM000664.2:g.108907871T>C | GRCh38 |
| NC_000002.11:g.109524327T>C , CM000664.1:g.109524327T>C | GRCh37 |
| NC_000002.10:g.108890759T>C | NCBI36 |
| NG_008257.1:g.86502A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.952A>G (EDAR) MANE Select | ENSP00000258443.2:p.Lys318Glu | |
| ENST00000258443.6:c.952A>G (EDAR) | ENSP00000258443.2:p.Lys318Glu | |
| ENST00000376651.1:c.1048A>G (EDAR) | ENSP00000365839.1:p.Lys350Glu | |
| ENST00000409271.5:c.1048A>G (EDAR) | ENSP00000386371.1:p.Lys350Glu | |
| NM_022336.3:c.952A>G (EDAR) | NP_071731.1:p.Lys318Glu | |
| XM_006712204.1:c.1048A>G (EDAR) | XP_006712267.1:p.Lys350Glu | |
| XM_011510502.1:c.1099A>G (EDAR) | XP_011508804.1:p.Lys367Glu | |
| XM_011510503.1:c.1003A>G (EDAR) | XP_011508805.1:p.Lys335Glu | |
| XM_011510504.1:c.379A>G (EDAR) | XP_011508806.1:p.Lys127Glu | |
| XM_011510502.2:c.1192A>G (EDAR) | XP_011508804.2:p.Lys398Glu | |
| XM_011510503.2:c.1096A>G (EDAR) | XP_011508805.2:p.Lys366Glu | |
| XM_017004623.2:c.8370+134825T>C (RANBP2) | XP_016860112.1:n.8370+134825T>C | |
| NM_022336.4:c.952A>G (EDAR) MANE Select | NP_071731.1:p.Lys318Glu |