Linked Data
ClinVar Variation Id:
217507
ClinVar RCV Id:
RCV000201516
dbSNP Id:
rs863225122
PubMed:
PMID:26072516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140679123G>T , CM000667.2:g.140679123G>T | GRCh38 |
| NC_000005.9:g.140058708G>T , CM000667.1:g.140058708G>T | GRCh37 |
| NC_000005.8:g.140038892G>T | NCBI36 |
| NG_032158.1:g.17264C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.181-1108C>A | ENSP00000393244.2:n.181-1108C>A | |
| ENST00000504156.7:c.401C>A MANE Select | ENSP00000425634.1:p.Pro134His | |
| ENST00000506579.6:n.486C>A | ||
| ENST00000507746.7:c.401C>A | ENSP00000425889.2:p.Pro134His | |
| ENST00000509087.2:c.181-3990C>A | ENSP00000502781.1:n.181-3990C>A | |
| ENST00000512396.6:c.*340C>A | ENSP00000421576.1:n.*340C>A | |
| ENST00000518126.6:n.1100C>A | ||
| ENST00000643686.1:c.*456C>A | ENSP00000493611.1:n.*456C>A | |
| ENST00000645491.1:c.*334C>A | ENSP00000494297.1:n.*334C>A | |
| ENST00000646229.1:c.452C>A | ||
| ENST00000674523.1:c.401C>A | ENSP00000501816.1:p.Pro134His | |
| ENST00000675094.1:n.486C>A | ||
| ENST00000675204.1:c.401C>A | ENSP00000501643.1:p.Pro134His | |
| ENST00000675355.1:n.246C>A | ||
| ENST00000675366.1:c.401C>A | ENSP00000501747.1:p.Pro134His | |
| ENST00000675698.1:c.194C>A | ENSP00000501581.1:p.Pro65His | |
| ENST00000675763.1:n.1322C>A | ||
| ENST00000675827.1:c.401C>A | ENSP00000501900.1:p.Pro134His | |
| ENST00000675851.1:c.301-1370C>A | ENSP00000502624.1:n.301-1370C>A | |
| ENST00000675898.1:n.1233C>A | ||
| ENST00000675967.1:n.875C>A | ||
| ENST00000676327.1:c.401C>A | ENSP00000502594.1:p.Pro134His | |
| ENST00000307633.7:c.281C>A | ENSP00000304668.3:p.Pro94His | |
| ENST00000415192.6:c.301-1108C>A | ENSP00000411085.2:n.301-1108C>A | |
| ENST00000431330.6:c.181-1108C>A | ENSP00000393244.2:n.181-1108C>A | |
| ENST00000438307.6:c.281C>A | ENSP00000411511.2:p.Pro94His | |
| ENST00000457527.6:c.401C>A | ENSP00000387893.2:p.Pro134His | |
| ENST00000504156.5:c.401C>A | ENSP00000425634.1:p.Pro134His | |
| ENST00000504366.5:c.194C>A | ENSP00000430063.1:p.Pro65His | |
| ENST00000506579.5:n.318C>A | ||
| ENST00000507746.5:c.301-1370C>A | ENSP00000425889.1:n.301-1370C>A | |
| ENST00000512396.5:c.*340C>A | ENSP00000421576.1:n.*340C>A | |
| NM_001258040.2:c.281C>A | NP_001244969.1:p.Pro94His | |
| NM_001258041.2:c.401C>A | NP_001244970.1:p.Pro134His | |
| NM_001258042.2:c.281C>A | NP_001244971.1:p.Pro94His | |
| NM_001289092.1:c.301-1108C>A | NP_001276021.1:n.301-1108C>A | |
| NM_001289093.1:c.181-1108C>A | NP_001276022.1:n.181-1108C>A | |
| NM_001289094.1:c.314C>A | NP_001276023.1:p.Pro105His | |
| NM_002109.5:c.401C>A | NP_002100.2:p.Pro134His | |
| NM_002109.6:c.401C>A MANE Select | NP_002100.2:p.Pro134His | |
| NM_001258040.3:c.281C>A | NP_001244969.1:p.Pro94His | |
| NM_001258041.3:c.401C>A | NP_001244970.1:p.Pro134His | |
| NM_001258042.3:c.281C>A | NP_001244971.1:p.Pro94His | |
| NM_001289092.2:c.301-1108C>A | NP_001276021.1:n.301-1108C>A | |
| NM_001289093.2:c.181-1108C>A | NP_001276022.1:n.181-1108C>A | |
| NM_001289094.2:c.314C>A | NP_001276023.1:p.Pro105His |