Linked Data
ClinVar Variation Id:
1693460
ClinVar RCV Id:
RCV002260871
dbSNP Id:
rs764454230
gnomAD v4:
X-100407180-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100407180A>T , CM000685.2:g.100407180A>T | GRCh38 |
| NC_000023.10:g.99662178A>T , CM000685.1:g.99662178A>T | GRCh37 |
| NC_000023.9:g.99548834A>T | NCBI36 |
| NG_021319.1:g.8094T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255531.8:c.1418T>A | ENSP00000255531.7:p.Leu473His | |
| ENST00000373034.8:c.1418T>A MANE Select | ENSP00000362125.4:p.Leu473His | |
| ENST00000420881.6:c.1418T>A | ENSP00000400327.2:p.Leu473His | |
| NM_001105243.1:c.1418T>A | NP_001098713.1:p.Leu473His | |
| NM_001184880.1:c.1418T>A | NP_001171809.1:p.Leu473His | |
| NM_020766.2:c.1418T>A | NP_065817.2:p.Leu473His | |
| XM_011530997.1:c.1418T>A | XP_011529299.1:p.Leu473His | |
| XM_011530997.2:c.1418T>A | XP_011529299.1:p.Leu473His | |
| NM_001105243.2:c.1418T>A | NP_001098713.1:p.Leu473His | |
| NM_001184880.2:c.1418T>A MANE Select | NP_001171809.1:p.Leu473His | |
| NM_020766.3:c.1418T>A | NP_065817.2:p.Leu473His |