Linked Data
ClinVar Variation Id:
138909
dbSNP Id:
rs141722767
ExAC:
2:86444252 A / C
gnomAD v2:
2-86444252-A-C
gnomAD v3:
2-86217129-A-C
gnomAD v4:
2-86217129-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86217129A>C , CM000664.2:g.86217129A>C | GRCh38 |
| NC_000002.11:g.86444252A>C , CM000664.1:g.86444252A>C | GRCh37 |
| NC_000002.10:g.86297763A>C | NCBI36 |
| NG_013037.1:g.125955T>G , LRG_713:g.125955T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.748-19T>G | ENSP00000495610.2:n.748-19T>G | |
| ENST00000686220.1:c.*44-19T>G | ENSP00000509904.1:n.*44-19T>G | |
| ENST00000687696.1:n.126-19T>G | ||
| ENST00000687927.1:n.1062-19T>G | ||
| ENST00000688400.1:c.284-19T>G | ENSP00000510490.1:n.284-19T>G | |
| ENST00000689156.1:c.418-19T>G | ENSP00000509143.1:n.418-19T>G | |
| ENST00000691093.1:c.416-19T>G | ENSP00000509465.1:n.416-19T>G | |
| ENST00000691703.1:c.632-19T>G | ENSP00000508496.1:n.632-19T>G | |
| ENST00000692664.1:c.446-19T>G | ENSP00000508656.1:n.446-19T>G | |
| ENST00000693329.1:c.*70-19T>G | ENSP00000508490.1:n.*70-19T>G | |
| ENST00000453231.6:c.617-19T>G | ENSP00000392197.2:n.617-19T>G | |
| ENST00000535845.6:c.515-19T>G | ENSP00000437567.1:n.515-19T>G | |
| ENST00000538924.7:c.784-19T>G MANE Select | ENSP00000438346.3:n.784-19T>G | |
| ENST00000541910.6:c.361-19T>G | ENSP00000442681.1:n.361-19T>G | |
| ENST00000642243.1:c.892-19T>G | ENSP00000494960.1:n.892-19T>G | |
| ENST00000643817.1:c.706-19T>G | ENSP00000495610.1:n.706-19T>G | |
| ENST00000644644.1:c.793-19T>G | ENSP00000494305.1:n.793-19T>G | |
| ENST00000646181.1:n.469-19T>G | ||
| ENST00000165698.9:c.596-19T>G | ENSP00000165698.5:n.596-19T>G | |
| ENST00000535845.5:c.515-19T>G | ENSP00000437567.1:n.515-19T>G | |
| ENST00000538924.5:c.617-19T>G | ENSP00000438346.1:n.617-19T>G | |
| ENST00000541910.5:c.361-19T>G | ENSP00000442681.1:n.361-19T>G | |
| NM_001164730.1:c.617-19T>G , LRG_713t1:c.617-19T>G | NP_001158202.1:n.617-19T>G | |
| NM_001164731.1:c.515-19T>G | NP_001158203.1:n.515-19T>G | |
| NM_001164732.1:c.361-19T>G | NP_001158204.1:n.361-19T>G | |
| NM_022912.2:c.596-19T>G , LRG_713t2:c.596-19T>G | NP_075063.1:n.596-19T>G | |
| XM_005264502.1:c.784-19T>G | XP_005264559.1:n.784-19T>G | |
| XM_005264504.1:c.670-19T>G | XP_005264561.1:n.670-19T>G | |
| XM_011533043.1:c.769-19T>G | XP_011531345.1:n.769-19T>G | |
| XM_011533044.1:c.766-19T>G | XP_011531346.1:n.766-19T>G | |
| XM_011533045.1:c.760-19T>G | XP_011531347.1:n.760-19T>G | |
| XM_011533046.1:c.653-19T>G | XP_011531348.1:n.653-19T>G | |
| XM_005264502.2:c.784-19T>G | XP_005264559.1:n.784-19T>G | |
| XM_011533045.2:c.760-19T>G | XP_011531347.1:n.760-19T>G | |
| XM_017004725.1:c.769-19T>G | XP_016860214.1:n.769-19T>G | |
| XM_017004726.1:c.653-19T>G | XP_016860215.1:n.653-19T>G | |
| XM_017004727.1:c.617-19T>G | XP_016860216.1:n.617-19T>G | |
| NM_001164730.2:c.617-19T>G | NP_001158202.1:n.617-19T>G | |
| NM_001164731.2:c.515-19T>G | NP_001158203.1:n.515-19T>G | |
| NM_001164732.2:c.361-19T>G | NP_001158204.1:n.361-19T>G | |
| NM_001371279.1:c.784-19T>G MANE Select | NP_001358208.1:n.784-19T>G | |
| NM_001371280.1:c.418-19T>G | NP_001358209.1:n.418-19T>G | |
| NM_022912.3:c.596-19T>G | NP_075063.1:n.596-19T>G |