Linked Data
ClinVar Variation Id:
2937739
ClinVar RCV Id:
RCV003794369
dbSNP Id:
rs768660721
ExAC:
2:109524386 G / C
gnomAD v2:
2-109524386-G-C
gnomAD v3:
2-108907930-G-C
gnomAD v4:
2-108907930-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907930G>C , CM000664.2:g.108907930G>C | GRCh38 |
| NC_000002.11:g.109524386G>C , CM000664.1:g.109524386G>C | GRCh37 |
| NC_000002.10:g.108890818G>C | NCBI36 |
| NG_008257.1:g.86443C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.893C>G (EDAR) MANE Select | ENSP00000258443.2:p.Pro298Arg | |
| ENST00000258443.6:c.893C>G (EDAR) | ENSP00000258443.2:p.Pro298Arg | |
| ENST00000376651.1:c.989C>G (EDAR) | ENSP00000365839.1:p.Pro330Arg | |
| ENST00000409271.5:c.989C>G (EDAR) | ENSP00000386371.1:p.Pro330Arg | |
| NM_022336.3:c.893C>G (EDAR) | NP_071731.1:p.Pro298Arg | |
| XM_006712204.1:c.989C>G (EDAR) | XP_006712267.1:p.Pro330Arg | |
| XM_011510502.1:c.1040C>G (EDAR) | XP_011508804.1:p.Pro347Arg | |
| XM_011510503.1:c.944C>G (EDAR) | XP_011508805.1:p.Pro315Arg | |
| XM_011510504.1:c.320C>G (EDAR) | XP_011508806.1:p.Pro107Arg | |
| XM_011510502.2:c.1133C>G (EDAR) | XP_011508804.2:p.Pro378Arg | |
| XM_011510503.2:c.1037C>G (EDAR) | XP_011508805.2:p.Pro346Arg | |
| XM_017004623.2:c.8370+134884G>C (RANBP2) | XP_016860112.1:n.8370+134884G>C | |
| NM_022336.4:c.893C>G (EDAR) MANE Select | NP_071731.1:p.Pro298Arg |