Linked Data
ClinVar Variation Id:
680354
ClinVar RCV Id:
RCV000840127
dbSNP Id:
rs769418161
ExAC:
6:30890692 C / T
gnomAD v2:
6-30890692-C-T
gnomAD v3:
6-30922915-C-T
gnomAD v4:
6-30922915-C-T
COSMIC:
COSM3252433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30922915C>T , CM000668.2:g.30922915C>T | GRCh38 |
| NC_000006.11:g.30890692C>T , CM000668.1:g.30890692C>T | GRCh37 |
| NC_000006.10:g.30998671C>T | NCBI36 |
| NG_034224.1:g.13708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2124C>T | ENSP00000441000.2:p.His708= | |
| ENST00000672801.1:c.2118C>T | ENSP00000500615.1:p.His706= | |
| ENST00000676266.1:c.2124C>T MANE Select | ENSP00000502585.1:p.His708= | |
| ENST00000321897.9:c.2124C>T | ENSP00000316092.5:p.His708= | |
| ENST00000469358.5:n.2112C>T | ||
| ENST00000476162.5:n.911C>T | ||
| ENST00000477052.1:n.210C>T | ||
| ENST00000477288.5:n.4737C>T | ||
| ENST00000541562.5:c.2214C>T | ENSP00000441000.1:p.His738= | |
| ENST00000542001.5:c.2118C>T | ENSP00000438200.2:p.His706= | |
| ENST00000625423.2:c.1704C>T | ENSP00000485818.1:p.His568= | |
| NM_001167733.2:c.1704C>T | NP_001161205.1:p.His568= | |
| NM_001167734.1:c.2214C>T | NP_001161206.1:p.His738= | |
| NM_020442.5:c.2124C>T | NP_065175.4:p.His708= | |
| NM_001167733.3:c.1704C>T | NP_001161205.1:p.His568= | |
| NM_001167734.2:c.2214C>T | NP_001161206.1:p.His738= | |
| NM_020442.6:c.2124C>T MANE Select | NP_065175.4:p.His708= |