Linked Data
ClinVar Variation Id:
766672
ClinVar RCV Id:
RCV001427887
dbSNP Id:
rs1590747902
gnomAD v4:
11-6394259-T-C
MyVariant Identifiers:
chr11:g.6415489T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394259T>C , CM000673.2:g.6394259T>C | GRCh38 |
| NC_000011.9:g.6415489T>C , CM000673.1:g.6415489T>C | GRCh37 |
| NC_000011.8:g.6372065T>C | NCBI36 |
| NG_011780.1:g.8835T>C | |
| NG_029615.1:g.30156A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1548T>C MANE Select | ENSP00000340409.4:p.His516= | |
| ENST00000342245.8:c.1548T>C | ENSP00000340409.4:p.His516= | |
| ENST00000526280.1:c.605T>C | ||
| ENST00000527275.5:c.1545T>C | ENSP00000435350.1:p.His515= | |
| ENST00000531303.5:c.*399T>C | ENSP00000432625.1:n.*399T>C | |
| ENST00000531336.1:n.536T>C | ||
| ENST00000533123.5:c.*275T>C | ENSP00000435950.1:n.*275T>C | |
| ENST00000534405.5:c.*379T>C | ENSP00000434353.1:n.*379T>C | |
| NM_000543.4:c.1548T>C | NP_000534.3:p.His516= | |
| NM_001007593.2:c.1545T>C | NP_001007594.2:p.His515= | |
| XM_005253075.3:c.*41T>C | XP_005253132.1:n.*41T>C | |
| XM_011520303.1:c.1416T>C | XP_011518605.1:p.His472= | |
| XM_011520304.1:c.*41T>C | XP_011518606.1:n.*41T>C | |
| NM_001318087.1:c.*41T>C | NP_001305016.1:n.*41T>C | |
| NM_001318088.1:c.627T>C | NP_001305017.1:p.His209= | |
| NM_001365135.1:c.1416T>C | NP_001352064.1:p.His472= | |
| NR_027400.2:n.1561T>C | ||
| NR_134502.1:n.1100T>C | ||
| XM_011520304.2:c.*41T>C | XP_011518606.1:n.*41T>C | |
| XR_001747940.2:n.1733T>C | ||
| XR_002957158.1:n.1915T>C | ||
| NM_000543.5:c.1548T>C MANE Select | NP_000534.3:p.His516= | |
| NM_001007593.3:c.1545T>C | NP_001007594.2:p.His515= | |
| NM_001318087.2:c.*41T>C | NP_001305016.1:n.*41T>C | |
| NM_001318088.2:c.627T>C | NP_001305017.1:p.His209= | |
| NM_001365135.2:c.1416T>C | NP_001352064.1:p.His472= | |
| NR_027400.3:n.1501T>C | ||
| NR_134502.2:n.1040T>C |