Linked Data
ClinVar Variation Id:
1618189
ClinVar RCV Id:
RCV002081886
dbSNP Id:
rs2142369096
MyVariant Identifiers:
chr16:g.23640591T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629270T>C , CM000678.2:g.23629270T>C | GRCh38 |
| NC_000016.9:g.23640591T>C , CM000678.1:g.23640591T>C | GRCh37 |
| NC_000016.8:g.23548092T>C | NCBI36 |
| NG_007406.1:g.17088A>G , LRG_308:g.17088A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2526A>G | ENSP00000460666.3:p.Glu842= | |
| ENST00000565038.2:c.*1A>G | ENSP00000459882.2:n.*1A>G | |
| ENST00000566069.6:c.2520A>G | ENSP00000459237.2:p.Glu840= | |
| ENST00000697377.2:c.2526A>G | ENSP00000513286.2:p.Glu842= | |
| ENST00000697379.2:c.2526A>G | ENSP00000513287.2:p.Glu842= | |
| ENST00000561514.2:c.1635A>G | ENSP00000460666.2:p.Glu545= | |
| ENST00000697374.1:c.1635A>G | ENSP00000513284.1:p.Glu545= | |
| ENST00000697375.1:n.3867A>G | ||
| ENST00000697376.1:c.1635A>G | ENSP00000513285.1:p.Glu545= | |
| ENST00000697377.1:c.1635A>G | ENSP00000513286.1:p.Glu545= | |
| ENST00000697378.1:n.3040A>G | ||
| ENST00000697379.1:c.1635A>G | ENSP00000513287.1:p.Glu545= | |
| ENST00000697380.1:n.1812A>G | ||
| ENST00000697381.1:n.1215A>G | ||
| ENST00000697382.1:c.1635A>G | ENSP00000513288.1:p.Glu545= | |
| ENST00000697383.1:c.54A>G | ENSP00000513289.1:p.Glu18= | |
| ENST00000697384.1:n.2674A>G | ||
| ENST00000261584.9:c.2520A>G MANE Select | ENSP00000261584.4:p.Glu840= | |
| ENST00000261584.8:c.2520A>G | ENSP00000261584.4:p.Glu840= | |
| ENST00000565038.1:c.92A>G | ||
| ENST00000568219.5:c.1635A>G | ENSP00000454703.2:p.Glu545= | |
| NM_024675.3:c.2520A>G , LRG_308t1:c.2520A>G | NP_078951.2:p.Glu840= | |
| XM_011545946.1:c.2526A>G | XP_011544248.1:p.Glu842= | |
| XM_011545947.1:c.2526A>G | XP_011544249.1:p.Glu842= | |
| XM_011545948.1:c.1635A>G | XP_011544250.1:p.Glu545= | |
| XR_950851.1:n.3316A>G | ||
| XM_011545946.2:c.2526A>G | XP_011544248.1:p.Glu842= | |
| XM_011545947.2:c.2526A>G | XP_011544249.1:p.Glu842= | |
| XM_011545948.2:c.1635A>G | XP_011544250.1:p.Glu545= | |
| XM_017023671.1:c.2526A>G | XP_016879160.1:p.Glu842= | |
| XM_017023672.2:c.2520A>G | XP_016879161.1:p.Glu840= | |
| XM_017023673.2:c.2520A>G | XP_016879162.1:p.Glu840= | |
| NM_024675.4:c.2520A>G MANE Select | NP_078951.2:p.Glu840= |