Linked Data
ClinVar Variation Id:
40646
ClinVar RCV Id:
RCV000460292
RCV000514749
RCV000986626
RCV000852537
RCV001281498
RCV002444455
RCV003407394
dbSNP Id:
rs201352584
ExAC:
2:39285926 A / C
gnomAD v2:
2-39285926-A-C
gnomAD v3:
2-39058785-A-C
gnomAD v4:
2-39058785-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39058785A>C , CM000664.2:g.39058785A>C | GRCh38 |
| NC_000002.11:g.39285926A>C , CM000664.1:g.39285926A>C | GRCh37 |
| NC_000002.10:g.39139430A>C | NCBI36 |
| NG_007530.1:g.66679T>G , LRG_754:g.66679T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.260T>G | ||
| ENST00000685782.1:n.1071T>G | ||
| ENST00000689668.1:n.240T>G | ||
| ENST00000690679.1:c.333T>G | ||
| ENST00000690876.1:c.233T>G | ENSP00000508955.1:p.Phe78Cys | |
| ENST00000691229.1:c.233T>G | ENSP00000510437.1:p.Phe78Cys | |
| ENST00000692089.1:c.233T>G | ENSP00000508626.1:p.Phe78Cys | |
| ENST00000402219.8:c.233T>G MANE Select | ENSP00000384675.2:p.Phe78Cys | |
| ENST00000395038.6:c.233T>G | ENSP00000378479.2:p.Phe78Cys | |
| ENST00000402219.6:c.233T>G | ENSP00000384675.2:p.Phe78Cys | |
| ENST00000426016.5:c.233T>G | ENSP00000387784.1:p.Phe78Cys | |
| ENST00000451331.1:c.62T>G | ENSP00000393899.1:p.Phe21Cys | |
| NM_005633.3:c.233T>G , LRG_754t1:c.233T>G | NP_005624.2:p.Phe78Cys | |
| XM_005264515.3:c.233T>G | XP_005264572.1:p.Phe78Cys | |
| XM_011533060.1:c.326T>G | XP_011531362.1:p.Phe109Cys | |
| XM_011533061.1:c.326T>G | XP_011531363.1:p.Phe109Cys | |
| XM_011533062.1:c.212T>G | XP_011531364.1:p.Phe71Cys | |
| XM_011533063.1:c.209T>G | XP_011531365.1:p.Phe70Cys | |
| XM_011533064.1:c.62T>G | XP_011531366.1:p.Phe21Cys | |
| XM_011533065.1:c.326T>G | XP_011531367.1:p.Phe109Cys | |
| XM_005264515.4:c.233T>G | XP_005264572.1:p.Phe78Cys | |
| XM_011533062.2:c.212T>G | XP_011531364.1:p.Phe71Cys | |
| XM_011533064.2:c.62T>G | XP_011531366.1:p.Phe21Cys | |
| NM_001382394.1:c.212T>G | NP_001369323.1:p.Phe71Cys | |
| NM_001382395.1:c.233T>G | NP_001369324.1:p.Phe78Cys | |
| NM_005633.4:c.233T>G MANE Select | NP_005624.2:p.Phe78Cys |