Linked Data
ClinVar Variation Id:
508132
dbSNP Id:
rs369674332
ExAC:
2:86479134 G / A
gnomAD v2:
2-86479134-G-A
gnomAD v3:
2-86252011-G-A
gnomAD v4:
2-86252011-G-A
COSMIC:
COSM2823000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86252011G>A , CM000664.2:g.86252011G>A | GRCh38 |
| NC_000002.11:g.86479134G>A , CM000664.1:g.86479134G>A | GRCh37 |
| NC_000002.10:g.86332645G>A | NCBI36 |
| NG_013037.1:g.91073C>T , LRG_713:g.91073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.363C>T | ENSP00000495610.2:p.Phe121= | |
| ENST00000686220.1:c.282C>T | ENSP00000509904.1:p.Phe94= | |
| ENST00000688400.1:c.106-19209C>T | ENSP00000510490.1:n.106-19209C>T | |
| ENST00000689156.1:c.363C>T | ENSP00000509143.1:p.Phe121= | |
| ENST00000691093.1:c.183C>T | ENSP00000509465.1:p.Phe61= | |
| ENST00000691703.1:c.363C>T | ENSP00000508496.1:p.Phe121= | |
| ENST00000692664.1:c.213C>T | ENSP00000508656.1:p.Phe71= | |
| ENST00000693329.1:c.363C>T | ENSP00000508490.1:p.Phe121= | |
| ENST00000453231.6:c.384C>T | ENSP00000392197.2:p.Phe128= | |
| ENST00000535845.6:c.282C>T | ENSP00000437567.1:p.Phe94= | |
| ENST00000538924.7:c.363C>T MANE Select | ENSP00000438346.3:p.Phe121= | |
| ENST00000541910.6:c.182+11954C>T | ENSP00000442681.1:n.182+11954C>T | |
| ENST00000642243.1:c.321C>T | ENSP00000494960.1:p.Phe107= | |
| ENST00000643817.1:c.321C>T | ENSP00000495610.1:p.Phe107= | |
| ENST00000644644.1:c.321C>T | ENSP00000494305.1:p.Phe107= | |
| ENST00000165698.9:c.363C>T | ENSP00000165698.5:p.Phe121= | |
| ENST00000428491.5:c.282C>T | ENSP00000400607.1:p.Phe94= | |
| ENST00000437769.5:c.182+11954C>T | ENSP00000401140.1:n.182+11954C>T | |
| ENST00000453231.5:c.384C>T | ENSP00000392197.1:p.Phe128= | |
| ENST00000473407.5:n.453C>T | ||
| ENST00000489855.2:c.299C>T | ||
| ENST00000490915.5:n.385C>T | ||
| ENST00000535845.5:c.282C>T | ENSP00000437567.1:p.Phe94= | |
| ENST00000538924.5:c.384C>T | ENSP00000438346.1:p.Phe128= | |
| ENST00000541910.5:c.182+11954C>T | ENSP00000442681.1:n.182+11954C>T | |
| NM_001164730.1:c.384C>T , LRG_713t1:c.384C>T | NP_001158202.1:p.Phe128= | |
| NM_001164731.1:c.282C>T | NP_001158203.1:p.Phe94= | |
| NM_001164732.1:c.182+11954C>T | NP_001158204.1:n.182+11954C>T | |
| NM_022912.2:c.363C>T , LRG_713t2:c.363C>T | NP_075063.1:p.Phe121= | |
| XM_005264502.1:c.363C>T | XP_005264559.1:p.Phe121= | |
| XM_005264504.1:c.249C>T | XP_005264561.1:p.Phe83= | |
| XM_011533043.1:c.384C>T | XP_011531345.1:p.Phe128= | |
| XM_011533044.1:c.345C>T | XP_011531346.1:p.Phe115= | |
| XM_011533045.1:c.339C>T | XP_011531347.1:p.Phe113= | |
| XM_011533046.1:c.384C>T | XP_011531348.1:p.Phe128= | |
| XM_005264502.2:c.363C>T | XP_005264559.1:p.Phe121= | |
| XM_011533045.2:c.339C>T | XP_011531347.1:p.Phe113= | |
| XM_017004725.1:c.384C>T | XP_016860214.1:p.Phe128= | |
| XM_017004726.1:c.384C>T | XP_016860215.1:p.Phe128= | |
| XM_017004727.1:c.384C>T | XP_016860216.1:p.Phe128= | |
| NM_001164730.2:c.384C>T | NP_001158202.1:p.Phe128= | |
| NM_001164731.2:c.282C>T | NP_001158203.1:p.Phe94= | |
| NM_001164732.2:c.182+11954C>T | NP_001158204.1:n.182+11954C>T | |
| NM_001371279.1:c.363C>T MANE Select | NP_001358208.1:p.Phe121= | |
| NM_001371280.1:c.363C>T | NP_001358209.1:p.Phe121= | |
| NM_022912.3:c.363C>T | NP_075063.1:p.Phe121= |