Linked Data
ClinVar Variation Id:
373037
ClinVar RCV Id:
RCV001542550
dbSNP Id:
rs1057518160
gnomAD v2:
1-154960616-C-A
gnomAD v3:
1-154988140-C-A
gnomAD v4:
1-154988140-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154988140C>A , CM000663.2:g.154988140C>A | GRCh38 |
| NC_000001.10:g.154960616C>A , CM000663.1:g.154960616C>A | GRCh37 |
| NC_000001.9:g.153227240C>A | NCBI36 |
| NG_042310.1:g.9847C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292180.8:c.408C>A MANE Select | ENSP00000292180.3:p.Cys136Ter | |
| ENST00000292180.7:c.408C>A | ENSP00000292180.3:p.Cys136Ter | |
| ENST00000295530.6:c.-394C>A | ENSP00000295530.2:n.-394C>A | |
| ENST00000315144.14:c.117C>A | ENSP00000317296.10:p.Cys39Ter | |
| ENST00000368431.7:c.111C>A | ENSP00000357416.3:p.Cys37Ter | |
| ENST00000368432.5:c.117C>A | ENSP00000357417.1:p.Cys39Ter | |
| ENST00000368433.5:c.408C>A | ENSP00000357418.1:p.Cys136Ter | |
| ENST00000487371.1:n.464C>A | ||
| NM_001184891.1:c.117C>A | NP_001171820.1:p.Cys39Ter | |
| NM_001184892.1:c.111C>A | NP_001171821.1:p.Cys37Ter | |
| NM_025207.4:c.408C>A | NP_079483.3:p.Cys136Ter | |
| NM_201398.2:c.117C>A | NP_958800.1:p.Cys39Ter | |
| XM_005245502.2:c.117C>A | XP_005245559.1:p.Cys39Ter | |
| XM_005245503.2:c.-394C>A | XP_005245560.1:n.-394C>A | |
| XM_006711559.2:c.117C>A | XP_006711622.1:p.Cys39Ter | |
| XR_241098.3:n.326C>A | ||
| NM_025207.5:c.408C>A MANE Select | NP_079483.3:p.Cys136Ter | |
| NM_001184891.2:c.117C>A | NP_001171820.1:p.Cys39Ter | |
| NM_001184892.2:c.111C>A | NP_001171821.1:p.Cys37Ter | |
| NM_201398.3:c.117C>A | NP_958800.1:p.Cys39Ter |