Linked Data
ClinVar Variation Id:
224884
ClinVar RCV Id:
RCV000210477
dbSNP Id:
rs869312880
PubMed:
PMID:28099355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86232624C>T , CM000664.2:g.86232624C>T | GRCh38 |
| NC_000002.11:g.86459747C>T , CM000664.1:g.86459747C>T | GRCh37 |
| NC_000002.10:g.86313258C>T | NCBI36 |
| NG_013037.1:g.110460G>A , LRG_713:g.110460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.595+1G>A | ENSP00000495610.2:n.595+1G>A | |
| ENST00000686220.1:c.514+1G>A | ENSP00000509904.1:n.514+1G>A | |
| ENST00000688400.1:c.283+1G>A | ENSP00000510490.1:n.283+1G>A | |
| ENST00000689156.1:c.418-15514G>A | ENSP00000509143.1:n.418-15514G>A | |
| ENST00000691093.1:c.415+1G>A | ENSP00000509465.1:n.415+1G>A | |
| ENST00000691703.1:c.595+1G>A | ENSP00000508496.1:n.595+1G>A | |
| ENST00000692664.1:c.445+1G>A | ENSP00000508656.1:n.445+1G>A | |
| ENST00000693329.1:c.595+1G>A | ENSP00000508490.1:n.595+1G>A | |
| ENST00000453231.6:c.616+1G>A | ENSP00000392197.2:n.616+1G>A | |
| ENST00000535845.6:c.514+1G>A | ENSP00000437567.1:n.514+1G>A | |
| ENST00000538924.7:c.595+1G>A MANE Select | ENSP00000438346.3:n.595+1G>A | |
| ENST00000541910.6:c.360+1G>A | ENSP00000442681.1:n.360+1G>A | |
| ENST00000642243.1:c.703+1G>A | ENSP00000494960.1:n.703+1G>A | |
| ENST00000643817.1:c.553+1G>A | ENSP00000495610.1:n.553+1G>A | |
| ENST00000644644.1:c.604+1G>A | ENSP00000494305.1:n.604+1G>A | |
| ENST00000165698.9:c.595+1G>A | ENSP00000165698.5:n.595+1G>A | |
| ENST00000437769.5:c.361G>A | ||
| ENST00000535845.5:c.514+1G>A | ENSP00000437567.1:n.514+1G>A | |
| ENST00000538924.5:c.616+1G>A | ENSP00000438346.1:n.616+1G>A | |
| ENST00000541910.5:c.360+1G>A | ENSP00000442681.1:n.360+1G>A | |
| NM_001164730.1:c.616+1G>A , LRG_713t1:c.616+1G>A | NP_001158202.1:n.616+1G>A | |
| NM_001164731.1:c.514+1G>A | NP_001158203.1:n.514+1G>A | |
| NM_001164732.1:c.360+1G>A | NP_001158204.1:n.360+1G>A | |
| NM_022912.2:c.595+1G>A , LRG_713t2:c.595+1G>A | NP_075063.1:n.595+1G>A | |
| XM_005264502.1:c.595+1G>A | XP_005264559.1:n.595+1G>A | |
| XM_005264504.1:c.481+1G>A | XP_005264561.1:n.481+1G>A | |
| XM_011533043.1:c.616+1G>A | XP_011531345.1:n.616+1G>A | |
| XM_011533044.1:c.577+1G>A | XP_011531346.1:n.577+1G>A | |
| XM_011533045.1:c.571+1G>A | XP_011531347.1:n.571+1G>A | |
| XM_011533046.1:c.616+1G>A | XP_011531348.1:n.616+1G>A | |
| XM_005264502.2:c.595+1G>A | XP_005264559.1:n.595+1G>A | |
| XM_011533045.2:c.571+1G>A | XP_011531347.1:n.571+1G>A | |
| XM_017004725.1:c.616+1G>A | XP_016860214.1:n.616+1G>A | |
| XM_017004726.1:c.616+1G>A | XP_016860215.1:n.616+1G>A | |
| XM_017004727.1:c.616+1G>A | XP_016860216.1:n.616+1G>A | |
| NM_001164730.2:c.616+1G>A | NP_001158202.1:n.616+1G>A | |
| NM_001164731.2:c.514+1G>A | NP_001158203.1:n.514+1G>A | |
| NM_001164732.2:c.360+1G>A | NP_001158204.1:n.360+1G>A | |
| NM_001371279.1:c.595+1G>A MANE Select | NP_001358208.1:n.595+1G>A | |
| NM_001371280.1:c.418-15514G>A | NP_001358209.1:n.418-15514G>A | |
| NM_022912.3:c.595+1G>A | NP_075063.1:n.595+1G>A |