Linked Data
ClinVar Variation Id:
424660
ClinVar RCV Id:
RCV000516005
dbSNP Id:
rs1266102026
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86282217C>G , CM000664.2:g.86282217C>G | GRCh38 |
| NC_000002.11:g.86509340C>G , CM000664.1:g.86509340C>G | GRCh37 |
| NC_000002.10:g.86362851C>G | NCBI36 |
| NG_013037.1:g.60867G>C , LRG_713:g.60867G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.58G>C | ENSP00000495610.2:p.Ala20Pro | |
| ENST00000686220.1:c.25-18176G>C | ENSP00000509904.1:n.25-18176G>C | |
| ENST00000688400.1:c.58G>C | ENSP00000510490.1:p.Ala20Pro | |
| ENST00000689156.1:c.58G>C | ENSP00000509143.1:p.Ala20Pro | |
| ENST00000691093.1:c.-46G>C | ENSP00000509465.1:n.-46G>C | |
| ENST00000691703.1:c.58G>C | ENSP00000508496.1:p.Ala20Pro | |
| ENST00000692664.1:c.33-27403G>C | ENSP00000508656.1:n.33-27403G>C | |
| ENST00000693329.1:c.58G>C | ENSP00000508490.1:p.Ala20Pro | |
| ENST00000453231.6:c.79G>C | ENSP00000392197.2:p.Ala27Pro | |
| ENST00000535845.6:c.25-18176G>C | ENSP00000437567.1:n.25-18176G>C | |
| ENST00000538924.7:c.58G>C MANE Select | ENSP00000438346.3:p.Ala20Pro | |
| ENST00000541910.6:c.58G>C | ENSP00000442681.1:p.Ala20Pro | |
| ENST00000642243.1:c.16G>C | ENSP00000494960.1:p.Ala6Pro | |
| ENST00000643817.1:c.16G>C | ENSP00000495610.1:p.Ala6Pro | |
| ENST00000644644.1:c.16G>C | ENSP00000494305.1:p.Ala6Pro | |
| ENST00000165698.9:c.58G>C | ENSP00000165698.5:p.Ala20Pro | |
| ENST00000428491.5:c.25-18176G>C | ENSP00000400607.1:n.25-18176G>C | |
| ENST00000437769.5:c.58G>C | ENSP00000401140.1:p.Ala20Pro | |
| ENST00000453231.5:c.79G>C | ENSP00000392197.1:p.Ala27Pro | |
| ENST00000473407.5:n.148G>C | ||
| ENST00000475475.1:n.370G>C | ||
| ENST00000535845.5:c.25-18176G>C | ENSP00000437567.1:n.25-18176G>C | |
| ENST00000538924.5:c.79G>C | ENSP00000438346.1:p.Ala27Pro | |
| ENST00000541910.5:c.58G>C | ENSP00000442681.1:p.Ala20Pro | |
| NM_001164730.1:c.79G>C , LRG_713t1:c.79G>C | NP_001158202.1:p.Ala27Pro | |
| NM_001164731.1:c.25-18176G>C | NP_001158203.1:n.25-18176G>C | |
| NM_001164732.1:c.58G>C | NP_001158204.1:p.Ala20Pro | |
| NM_022912.2:c.58G>C , LRG_713t2:c.58G>C | NP_075063.1:p.Ala20Pro | |
| XM_005264502.1:c.58G>C | XP_005264559.1:p.Ala20Pro | |
| XM_005264504.1:c.-57G>C | XP_005264561.1:n.-57G>C | |
| XM_011533043.1:c.79G>C | XP_011531345.1:p.Ala27Pro | |
| XM_011533044.1:c.40G>C | XP_011531346.1:p.Ala14Pro | |
| XM_011533045.1:c.34G>C | XP_011531347.1:p.Ala12Pro | |
| XM_011533046.1:c.79G>C | XP_011531348.1:p.Ala27Pro | |
| XM_005264502.2:c.58G>C | XP_005264559.1:p.Ala20Pro | |
| XM_011533045.2:c.34G>C | XP_011531347.1:p.Ala12Pro | |
| XM_017004725.1:c.79G>C | XP_016860214.1:p.Ala27Pro | |
| XM_017004726.1:c.79G>C | XP_016860215.1:p.Ala27Pro | |
| XM_017004727.1:c.79G>C | XP_016860216.1:p.Ala27Pro | |
| NM_001164730.2:c.79G>C | NP_001158202.1:p.Ala27Pro | |
| NM_001164731.2:c.25-18176G>C | NP_001158203.1:n.25-18176G>C | |
| NM_001164732.2:c.58G>C | NP_001158204.1:p.Ala20Pro | |
| NM_001371279.1:c.58G>C MANE Select | NP_001358208.1:p.Ala20Pro | |
| NM_001371280.1:c.58G>C | NP_001358209.1:p.Ala20Pro | |
| NM_022912.3:c.58G>C | NP_075063.1:p.Ala20Pro |