Linked Data
ClinVar Variation Id:
1543349
ClinVar RCV Id:
RCV002182055
dbSNP Id:
rs2134899492
MyVariant Identifiers:
chr11:g.118968249C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097539C>T , CM000673.2:g.119097539C>T | GRCh38 |
| NC_000011.9:g.118968249C>T , CM000673.1:g.118968249C>T | GRCh37 |
| NC_000011.8:g.118473459C>T | NCBI36 |
| NG_008918.1:g.9537G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.988G>A | ||
| ENST00000524658.2:n.969G>A | ||
| ENST00000530052.2:n.1975G>A | ||
| ENST00000682191.1:n.1435G>A | ||
| ENST00000682192.1:n.1132G>A | ||
| ENST00000682232.1:c.*623-242G>A | ENSP00000507302.1:n.*623-242G>A | |
| ENST00000682326.1:c.918-242G>A | ENSP00000508129.1:n.918-242G>A | |
| ENST00000682404.1:n.2031G>A | ||
| ENST00000682517.1:n.2334G>A | ||
| ENST00000682652.1:n.2204G>A | ||
| ENST00000682665.1:n.1630G>A | ||
| ENST00000682691.1:n.1630G>A | ||
| ENST00000682791.1:c.843G>A | ENSP00000507312.1:p.Lys281= | |
| ENST00000682811.1:c.812G>A | ENSP00000508196.1:p.Arg271Lys | |
| ENST00000682883.1:n.1032-242G>A | ||
| ENST00000682946.1:c.*12G>A | ENSP00000506856.1:n.*12G>A | |
| ENST00000683143.1:c.*635G>A | ENSP00000507168.1:n.*635G>A | |
| ENST00000683373.1:n.1435G>A | ||
| ENST00000683558.1:n.1435G>A | ||
| ENST00000683567.1:n.1039G>A | ||
| ENST00000683955.1:n.1686G>A | ||
| ENST00000684142.1:c.*605G>A | ENSP00000508008.1:n.*605G>A | |
| ENST00000684252.1:n.1327G>A | ||
| ENST00000684255.1:c.*635G>A | ENSP00000507398.1:n.*635G>A | |
| ENST00000684315.1:n.1663G>A | ||
| ENST00000684345.1:c.*908G>A | ENSP00000507163.1:n.*908G>A | |
| ENST00000684499.1:c.*1035G>A | ENSP00000506800.1:n.*1035G>A | |
| ENST00000684682.1:c.*661G>A | ENSP00000507326.1:n.*661G>A | |
| ENST00000354202.9:c.930G>A MANE Select | ENSP00000346142.4:p.Lys310= | |
| ENST00000636404.1:c.233-476G>A | ||
| ENST00000638850.1:c.434G>A | ||
| ENST00000639704.1:c.837G>A | ENSP00000491336.1:p.Lys279= | |
| ENST00000640102.1:c.*583G>A | ENSP00000492027.1:n.*583G>A | |
| ENST00000640747.1:c.*605G>A | ENSP00000492730.1:n.*605G>A | |
| ENST00000354202.8:c.930G>A | ENSP00000346142.4:p.Lys310= | |
| ENST00000392834.7:c.*635G>A | ENSP00000376579.3:n.*635G>A | |
| ENST00000409993.6:c.930G>A | ENSP00000386597.2:p.Lys310= | |
| ENST00000414373.5:c.*475-242G>A | ENSP00000402019.1:n.*475-242G>A | |
| ENST00000442480.1:c.662G>A | ENSP00000406591.1:p.Arg221Lys | |
| ENST00000461999.1:n.1097G>A | ||
| ENST00000481084.5:n.1559G>A | ||
| ENST00000524658.1:n.235G>A | ||
| ENST00000525456.5:n.744G>A | ||
| NM_001382.3:c.930G>A | NP_001373.2:p.Lys310= | |
| XM_005271422.2:c.930G>A | XP_005271479.1:p.Lys310= | |
| XM_011542648.1:c.609G>A | XP_011540950.1:p.Lys203= | |
| XR_947801.1:n.1165-242G>A | ||
| XM_005271422.3:c.930G>A | XP_005271479.1:p.Lys310= | |
| XM_011542648.2:c.609G>A | XP_011540950.1:p.Lys203= | |
| XM_017017293.2:c.609G>A | XP_016872782.1:p.Lys203= | |
| XM_017017294.2:c.*12G>A | XP_016872783.1:n.*12G>A | |
| XM_017017295.1:c.414G>A | XP_016872784.1:p.Lys138= | |
| XR_001747785.2:n.964G>A | ||
| XR_947801.2:n.952-242G>A | ||
| NM_001382.4:c.930G>A MANE Select | NP_001373.2:p.Lys310= |