Linked Data
ClinVar Variation Id:
951857
ClinVar RCV Id:
RCV001223855
dbSNP Id:
rs1696610832
gnomAD v4:
2-108897046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897046G>A , CM000664.2:g.108897046G>A | GRCh38 |
| NC_000002.11:g.109513502G>A , CM000664.1:g.109513502G>A | GRCh37 |
| NC_000002.10:g.108879934G>A | NCBI36 |
| NG_008257.1:g.97327C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258443.7:c.1208C>T (EDAR) MANE Select | ENSP00000258443.2:p.Thr403Met | |
| ENST00000258443.6:c.1208C>T (EDAR) | ENSP00000258443.2:p.Thr403Met | |
| ENST00000376651.1:c.1304C>T (EDAR) | ENSP00000365839.1:p.Thr435Met | |
| ENST00000409271.5:c.1304C>T (EDAR) | ENSP00000386371.1:p.Thr435Met | |
| NM_022336.3:c.1208C>T (EDAR) | NP_071731.1:p.Thr403Met | |
| XM_006712204.1:c.1304C>T (EDAR) | XP_006712267.1:p.Thr435Met | |
| XM_011510502.1:c.1355C>T (EDAR) | XP_011508804.1:p.Thr452Met | |
| XM_011510503.1:c.1259C>T (EDAR) | XP_011508805.1:p.Thr420Met | |
| XM_011510504.1:c.635C>T (EDAR) | XP_011508806.1:p.Thr212Met | |
| XM_011510502.2:c.1448C>T (EDAR) | XP_011508804.2:p.Thr483Met | |
| XM_011510503.2:c.1352C>T (EDAR) | XP_011508805.2:p.Thr451Met | |
| XM_017004623.2:c.8370+124000G>A (RANBP2) | XP_016860112.1:n.8370+124000G>A | |
| NM_022336.4:c.1208C>T (EDAR) MANE Select | NP_071731.1:p.Thr403Met |