Linked Data
ClinVar Variation Id:
725034
ClinVar RCV Id:
RCV000899042
dbSNP Id:
rs1587069771
gnomAD v4:
8-119105882-C-T
MyVariant Identifiers:
chr8:g.120118121C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119105882C>T , CM000670.2:g.119105882C>T | GRCh38 |
| NC_000008.10:g.120118121C>T , CM000670.1:g.120118121C>T | GRCh37 |
| NC_000008.9:g.120187302C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332843.3:c.525C>T MANE Select | ENSP00000332723.2:p.His175= | |
| ENST00000332843.2:c.525C>T | ENSP00000332723.2:p.His175= | |
| NM_006438.3:c.525C>T | NP_006429.2:p.His175= | |
| XM_005250756.2:c.318C>T | XP_005250813.1:p.His106= | |
| XM_011516795.1:c.318C>T | XP_011515097.1:p.His106= | |
| NM_001324095.1:c.318C>T | NP_001311024.1:p.His106= | |
| NM_006438.4:c.525C>T | NP_006429.2:p.His175= | |
| XM_005250756.3:c.318C>T | XP_005250813.1:p.His106= | |
| NM_006438.5:c.525C>T MANE Select | NP_006429.2:p.His175= | |
| NM_001324095.2:c.318C>T | NP_001311024.1:p.His106= |