Linked Data
ClinVar Variation Id:
1183466
ClinVar RCV Id:
RCV001541318
dbSNP Id:
rs260643
gnomAD v2:
2-109539653-A-G
gnomAD v3:
2-108923197-A-G
gnomAD v4:
2-108923197-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108923197A>G , CM000664.2:g.108923197A>G | GRCh38 |
| NC_000002.11:g.109539653A>G , CM000664.1:g.109539653A>G | GRCh37 |
| NC_000002.10:g.108906085A>G | NCBI36 |
| NG_008257.1:g.71176T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.442+171T>C (EDAR) MANE Select | ENSP00000258443.2:n.442+171T>C | |
| ENST00000258443.6:c.442+171T>C (EDAR) | ENSP00000258443.2:n.442+171T>C | |
| ENST00000376651.1:c.442+171T>C (EDAR) | ENSP00000365839.1:n.442+171T>C | |
| ENST00000409271.5:c.442+171T>C (EDAR) | ENSP00000386371.1:n.442+171T>C | |
| NM_022336.3:c.442+171T>C (EDAR) | NP_071731.1:n.442+171T>C | |
| XM_006712204.1:c.442+171T>C (EDAR) | XP_006712267.1:n.442+171T>C | |
| XM_011510502.1:c.493+171T>C (EDAR) | XP_011508804.1:n.493+171T>C | |
| XM_011510503.1:c.493+171T>C (EDAR) | XP_011508805.1:n.493+171T>C | |
| XM_011510502.2:c.586+171T>C (EDAR) | XP_011508804.2:n.586+171T>C | |
| XM_011510503.2:c.586+171T>C (EDAR) | XP_011508805.2:n.586+171T>C | |
| XM_017004623.2:c.8370+150151A>G (RANBP2) | XP_016860112.1:n.8370+150151A>G | |
| NM_022336.4:c.442+171T>C (EDAR) MANE Select | NP_071731.1:n.442+171T>C |