Linked Data
ClinVar Variation Id:
1987152
ClinVar RCV Id:
RCV002771064
MyVariant Identifiers:
chr11:g.6415459C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394229C>T , CM000673.2:g.6394229C>T | GRCh38 |
| NC_000011.9:g.6415459C>T , CM000673.1:g.6415459C>T | GRCh37 |
| NC_000011.8:g.6372035C>T | NCBI36 |
| NG_011780.1:g.8805C>T | |
| NG_029615.1:g.30186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1518C>T MANE Select | ENSP00000340409.4:p.Tyr506= | |
| ENST00000342245.8:c.1518C>T | ENSP00000340409.4:p.Tyr506= | |
| ENST00000526280.1:c.575C>T | ||
| ENST00000527275.5:c.1515C>T | ENSP00000435350.1:p.Tyr505= | |
| ENST00000531303.5:c.*369C>T | ENSP00000432625.1:n.*369C>T | |
| ENST00000531336.1:n.506C>T | ||
| ENST00000533123.5:c.*245C>T | ENSP00000435950.1:n.*245C>T | |
| ENST00000534405.5:c.*349C>T | ENSP00000434353.1:n.*349C>T | |
| NM_000543.4:c.1518C>T | NP_000534.3:p.Tyr506= | |
| NM_001007593.2:c.1515C>T | NP_001007594.2:p.Tyr505= | |
| XM_005253075.3:c.*11C>T | XP_005253132.1:n.*11C>T | |
| XM_011520303.1:c.1386C>T | XP_011518605.1:p.Tyr462= | |
| XM_011520304.1:c.*11C>T | XP_011518606.1:n.*11C>T | |
| NM_001318087.1:c.*11C>T | NP_001305016.1:n.*11C>T | |
| NM_001318088.1:c.597C>T | NP_001305017.1:p.Tyr199= | |
| NM_001365135.1:c.1386C>T | NP_001352064.1:p.Tyr462= | |
| NR_027400.2:n.1531C>T | ||
| NR_134502.1:n.1070C>T | ||
| XM_011520304.2:c.*11C>T | XP_011518606.1:n.*11C>T | |
| XR_001747940.2:n.1703C>T | ||
| XR_002957158.1:n.1885C>T | ||
| NM_000543.5:c.1518C>T MANE Select | NP_000534.3:p.Tyr506= | |
| NM_001007593.3:c.1515C>T | NP_001007594.2:p.Tyr505= | |
| NM_001318087.2:c.*11C>T | NP_001305016.1:n.*11C>T | |
| NM_001318088.2:c.597C>T | NP_001305017.1:p.Tyr199= | |
| NM_001365135.2:c.1386C>T | NP_001352064.1:p.Tyr462= | |
| NR_027400.3:n.1471C>T | ||
| NR_134502.2:n.1010C>T |