Linked Data
ClinVar Variation Id:
463877
dbSNP Id:
rs917638291
gnomAD v2:
2-109513547-A-G
gnomAD v3:
2-108897091-A-G
gnomAD v4:
2-108897091-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897091A>G , CM000664.2:g.108897091A>G | GRCh38 |
| NC_000002.11:g.109513547A>G , CM000664.1:g.109513547A>G | GRCh37 |
| NC_000002.10:g.108879979A>G | NCBI36 |
| NG_008257.1:g.97282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1163T>C (EDAR) MANE Select | ENSP00000258443.2:p.Ile388Thr | |
| ENST00000258443.6:c.1163T>C (EDAR) | ENSP00000258443.2:p.Ile388Thr | |
| ENST00000376651.1:c.1259T>C (EDAR) | ENSP00000365839.1:p.Ile420Thr | |
| ENST00000409271.5:c.1259T>C (EDAR) | ENSP00000386371.1:p.Ile420Thr | |
| NM_022336.3:c.1163T>C (EDAR) | NP_071731.1:p.Ile388Thr | |
| XM_006712204.1:c.1259T>C (EDAR) | XP_006712267.1:p.Ile420Thr | |
| XM_011510502.1:c.1310T>C (EDAR) | XP_011508804.1:p.Ile437Thr | |
| XM_011510503.1:c.1214T>C (EDAR) | XP_011508805.1:p.Ile405Thr | |
| XM_011510504.1:c.590T>C (EDAR) | XP_011508806.1:p.Ile197Thr | |
| XM_011510502.2:c.1403T>C (EDAR) | XP_011508804.2:p.Ile468Thr | |
| XM_011510503.2:c.1307T>C (EDAR) | XP_011508805.2:p.Ile436Thr | |
| XM_017004623.2:c.8370+124045A>G (RANBP2) | XP_016860112.1:n.8370+124045A>G | |
| NM_022336.4:c.1163T>C (EDAR) MANE Select | NP_071731.1:p.Ile388Thr |