Linked Data
ClinVar Variation Id:
1123304
ClinVar RCV Id:
RCV001454314
dbSNP Id:
rs540422105
ExAC:
11:6415474 C / T
gnomAD v2:
11-6415474-C-T
gnomAD v3:
11-6394244-C-T
gnomAD v4:
11-6394244-C-T
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394244C>T , CM000673.2:g.6394244C>T | GRCh38 |
| NC_000011.9:g.6415474C>T , CM000673.1:g.6415474C>T | GRCh37 |
| NC_000011.8:g.6372050C>T | NCBI36 |
| NG_011780.1:g.8820C>T | |
| NG_029615.1:g.30171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1533C>T MANE Select | ENSP00000340409.4:p.His511= | |
| ENST00000342245.8:c.1533C>T | ENSP00000340409.4:p.His511= | |
| ENST00000526280.1:c.590C>T | ||
| ENST00000527275.5:c.1530C>T | ENSP00000435350.1:p.His510= | |
| ENST00000531303.5:c.*384C>T | ENSP00000432625.1:n.*384C>T | |
| ENST00000531336.1:n.521C>T | ||
| ENST00000533123.5:c.*260C>T | ENSP00000435950.1:n.*260C>T | |
| ENST00000534405.5:c.*364C>T | ENSP00000434353.1:n.*364C>T | |
| NM_000543.4:c.1533C>T | NP_000534.3:p.His511= | |
| NM_001007593.2:c.1530C>T | NP_001007594.2:p.His510= | |
| XM_005253075.3:c.*26C>T | XP_005253132.1:n.*26C>T | |
| XM_011520303.1:c.1401C>T | XP_011518605.1:p.His467= | |
| XM_011520304.1:c.*26C>T | XP_011518606.1:n.*26C>T | |
| NM_001318087.1:c.*26C>T | NP_001305016.1:n.*26C>T | |
| NM_001318088.1:c.612C>T | NP_001305017.1:p.His204= | |
| NM_001365135.1:c.1401C>T | NP_001352064.1:p.His467= | |
| NR_027400.2:n.1546C>T | ||
| NR_134502.1:n.1085C>T | ||
| XM_011520304.2:c.*26C>T | XP_011518606.1:n.*26C>T | |
| XR_001747940.2:n.1718C>T | ||
| XR_002957158.1:n.1900C>T | ||
| NM_000543.5:c.1533C>T MANE Select | NP_000534.3:p.His511= | |
| NM_001007593.3:c.1530C>T | NP_001007594.2:p.His510= | |
| NM_001318087.2:c.*26C>T | NP_001305016.1:n.*26C>T | |
| NM_001318088.2:c.612C>T | NP_001305017.1:p.His204= | |
| NM_001365135.2:c.1401C>T | NP_001352064.1:p.His467= | |
| NR_027400.3:n.1486C>T | ||
| NR_134502.2:n.1025C>T |