Linked Data
ClinVar Variation Id:
463878
ClinVar RCV Id:
RCV002231726
dbSNP Id:
rs899642068
gnomAD v2:
2-109513535-G-A
gnomAD v3:
2-108897079-G-A
gnomAD v4:
2-108897079-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897079G>A , CM000664.2:g.108897079G>A | GRCh38 |
| NC_000002.11:g.109513535G>A , CM000664.1:g.109513535G>A | GRCh37 |
| NC_000002.10:g.108879967G>A | NCBI36 |
| NG_008257.1:g.97294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1175C>T (EDAR) MANE Select | ENSP00000258443.2:p.Thr392Ile | |
| ENST00000258443.6:c.1175C>T (EDAR) | ENSP00000258443.2:p.Thr392Ile | |
| ENST00000376651.1:c.1271C>T (EDAR) | ENSP00000365839.1:p.Thr424Ile | |
| ENST00000409271.5:c.1271C>T (EDAR) | ENSP00000386371.1:p.Thr424Ile | |
| NM_022336.3:c.1175C>T (EDAR) | NP_071731.1:p.Thr392Ile | |
| XM_006712204.1:c.1271C>T (EDAR) | XP_006712267.1:p.Thr424Ile | |
| XM_011510502.1:c.1322C>T (EDAR) | XP_011508804.1:p.Thr441Ile | |
| XM_011510503.1:c.1226C>T (EDAR) | XP_011508805.1:p.Thr409Ile | |
| XM_011510504.1:c.602C>T (EDAR) | XP_011508806.1:p.Thr201Ile | |
| XM_011510502.2:c.1415C>T (EDAR) | XP_011508804.2:p.Thr472Ile | |
| XM_011510503.2:c.1319C>T (EDAR) | XP_011508805.2:p.Thr440Ile | |
| XM_017004623.2:c.8370+124033G>A (RANBP2) | XP_016860112.1:n.8370+124033G>A | |
| NM_022336.4:c.1175C>T (EDAR) MANE Select | NP_071731.1:p.Thr392Ile |