Linked Data
ClinVar Variation Id:
1174466
ClinVar RCV Id:
RCV001528082
dbSNP Id:
rs76244665
gnomAD v2:
2-109524689-A-G
gnomAD v3:
2-108908233-A-G
gnomAD v4:
2-108908233-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108908233A>G , CM000664.2:g.108908233A>G | GRCh38 |
| NC_000002.11:g.109524689A>G , CM000664.1:g.109524689A>G | GRCh37 |
| NC_000002.10:g.108891121A>G | NCBI36 |
| NG_008257.1:g.86140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.804-214T>C (EDAR) MANE Select | ENSP00000258443.2:n.804-214T>C | |
| ENST00000258443.6:c.804-214T>C (EDAR) | ENSP00000258443.2:n.804-214T>C | |
| ENST00000376651.1:c.900-214T>C (EDAR) | ENSP00000365839.1:n.900-214T>C | |
| ENST00000409271.5:c.900-214T>C (EDAR) | ENSP00000386371.1:n.900-214T>C | |
| NM_022336.3:c.804-214T>C (EDAR) | NP_071731.1:n.804-214T>C | |
| XM_006712204.1:c.900-214T>C (EDAR) | XP_006712267.1:n.900-214T>C | |
| XM_011510502.1:c.951-214T>C (EDAR) | XP_011508804.1:n.951-214T>C | |
| XM_011510503.1:c.855-214T>C (EDAR) | XP_011508805.1:n.855-214T>C | |
| XM_011510504.1:c.231-214T>C (EDAR) | XP_011508806.1:n.231-214T>C | |
| XM_011510502.2:c.1044-214T>C (EDAR) | XP_011508804.2:n.1044-214T>C | |
| XM_011510503.2:c.948-214T>C (EDAR) | XP_011508805.2:n.948-214T>C | |
| XM_017004623.2:c.8370+135187A>G (RANBP2) | XP_016860112.1:n.8370+135187A>G | |
| NM_022336.4:c.804-214T>C (EDAR) MANE Select | NP_071731.1:n.804-214T>C |