Linked Data
ClinVar Variation Id:
465821
dbSNP Id:
rs777245164
ExAC:
2:86459825 G / A
gnomAD v2:
2-86459825-G-A
gnomAD v3:
2-86232702-G-A
gnomAD v4:
2-86232702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86232702G>A , CM000664.2:g.86232702G>A | GRCh38 |
| NC_000002.11:g.86459825G>A , CM000664.1:g.86459825G>A | GRCh37 |
| NC_000002.10:g.86313336G>A | NCBI36 |
| NG_013037.1:g.110382C>T , LRG_713:g.110382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.518C>T | ENSP00000495610.2:p.Pro173Leu | |
| ENST00000686220.1:c.437C>T | ENSP00000509904.1:p.Pro146Leu | |
| ENST00000688400.1:c.206C>T | ENSP00000510490.1:p.Pro69Leu | |
| ENST00000689156.1:c.418-15592C>T | ENSP00000509143.1:n.418-15592C>T | |
| ENST00000691093.1:c.338C>T | ENSP00000509465.1:p.Pro113Leu | |
| ENST00000691703.1:c.518C>T | ENSP00000508496.1:p.Pro173Leu | |
| ENST00000692664.1:c.368C>T | ENSP00000508656.1:p.Pro123Leu | |
| ENST00000693329.1:c.518C>T | ENSP00000508490.1:p.Pro173Leu | |
| ENST00000453231.6:c.539C>T | ENSP00000392197.2:p.Pro180Leu | |
| ENST00000535845.6:c.437C>T | ENSP00000437567.1:p.Pro146Leu | |
| ENST00000538924.7:c.518C>T MANE Select | ENSP00000438346.3:p.Pro173Leu | |
| ENST00000541910.6:c.283C>T | ENSP00000442681.1:p.Arg95Trp | |
| ENST00000642243.1:c.626C>T | ENSP00000494960.1:p.Pro209Leu | |
| ENST00000643817.1:c.476C>T | ENSP00000495610.1:p.Pro159Leu | |
| ENST00000644644.1:c.527C>T | ENSP00000494305.1:p.Pro176Leu | |
| ENST00000165698.9:c.518C>T | ENSP00000165698.5:p.Pro173Leu | |
| ENST00000437769.5:c.283C>T | ENSP00000401140.1:p.Arg95Trp | |
| ENST00000453231.5:c.539C>T | ENSP00000392197.1:p.Pro180Leu | |
| ENST00000490915.5:n.540C>T | ||
| ENST00000535845.5:c.437C>T | ENSP00000437567.1:p.Pro146Leu | |
| ENST00000538924.5:c.539C>T | ENSP00000438346.1:p.Pro180Leu | |
| ENST00000541910.5:c.283C>T | ENSP00000442681.1:p.Arg95Trp | |
| NM_001164730.1:c.539C>T , LRG_713t1:c.539C>T | NP_001158202.1:p.Pro180Leu | |
| NM_001164731.1:c.437C>T | NP_001158203.1:p.Pro146Leu | |
| NM_001164732.1:c.283C>T | NP_001158204.1:p.Arg95Trp | |
| NM_022912.2:c.518C>T , LRG_713t2:c.518C>T | NP_075063.1:p.Pro173Leu | |
| XM_005264502.1:c.518C>T | XP_005264559.1:p.Pro173Leu | |
| XM_005264504.1:c.404C>T | XP_005264561.1:p.Pro135Leu | |
| XM_011533043.1:c.539C>T | XP_011531345.1:p.Pro180Leu | |
| XM_011533044.1:c.500C>T | XP_011531346.1:p.Pro167Leu | |
| XM_011533045.1:c.494C>T | XP_011531347.1:p.Pro165Leu | |
| XM_011533046.1:c.539C>T | XP_011531348.1:p.Pro180Leu | |
| XM_005264502.2:c.518C>T | XP_005264559.1:p.Pro173Leu | |
| XM_011533045.2:c.494C>T | XP_011531347.1:p.Pro165Leu | |
| XM_017004725.1:c.539C>T | XP_016860214.1:p.Pro180Leu | |
| XM_017004726.1:c.539C>T | XP_016860215.1:p.Pro180Leu | |
| XM_017004727.1:c.539C>T | XP_016860216.1:p.Pro180Leu | |
| NM_001164730.2:c.539C>T | NP_001158202.1:p.Pro180Leu | |
| NM_001164731.2:c.437C>T | NP_001158203.1:p.Pro146Leu | |
| NM_001164732.2:c.283C>T | NP_001158204.1:p.Arg95Trp | |
| NM_001371279.1:c.518C>T MANE Select | NP_001358208.1:p.Pro173Leu | |
| NM_001371280.1:c.418-15592C>T | NP_001358209.1:n.418-15592C>T | |
| NM_022912.3:c.518C>T | NP_075063.1:p.Pro173Leu |