Linked Data
ClinVar Variation Id:
1530452
dbSNP Id:
rs759923098
ExAC:
12:133249846 A / C
gnomAD v2:
12-133249846-A-C
gnomAD v4:
12-132673260-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673260A>C , CM000674.2:g.132673260A>C | GRCh38 |
| NC_000012.11:g.133249846A>C , CM000674.1:g.133249846A>C | GRCh37 |
| NC_000012.10:g.131759919A>C | NCBI36 |
| NG_033840.1:g.19265T>G , LRG_789:g.19265T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.85T>G | ||
| ENST00000545015.2:n.1404T>G | ||
| ENST00000699982.1:c.1231T>G | ||
| ENST00000699983.1:c.1231T>G | ||
| ENST00000699984.1:c.1231T>G | ||
| ENST00000320574.10:c.1377T>G MANE Select | ENSP00000322570.5:p.Ser459= | |
| ENST00000672742.1:c.*879T>G | ENSP00000500279.1:n.*879T>G | |
| ENST00000320574.9:c.1377T>G | ENSP00000322570.5:p.Ser459= | |
| ENST00000535270.5:c.1296T>G | ENSP00000445753.1:p.Ser432= | |
| ENST00000535934.2:n.1252T>G | ||
| ENST00000537064.5:c.*424T>G | ENSP00000442578.1:n.*424T>G | |
| ENST00000539215.5:n.85T>G | ||
| NM_006231.3:c.1377T>G , LRG_789t1:c.1377T>G | NP_006222.2:p.Ser459= | |
| XM_011534795.1:c.1377T>G | XP_011533097.1:p.Ser459= | |
| XM_011534796.1:c.1248T>G | XP_011533098.1:p.Ser416= | |
| XM_011534797.1:c.456T>G | XP_011533099.1:p.Ser152= | |
| XM_011534798.1:c.39T>G | XP_011533100.1:p.Ser13= | |
| XM_011534799.1:c.1377T>G | XP_011533101.1:p.Ser459= | |
| XM_011534800.1:c.1377T>G | XP_011533102.1:p.Ser459= | |
| XM_011534801.1:c.1377T>G | XP_011533103.1:p.Ser459= | |
| XR_941395.1:n.1586T>G | ||
| XM_011534795.3:c.1377T>G | XP_011533097.1:p.Ser459= | |
| XM_011534797.3:c.456T>G | XP_011533099.1:p.Ser152= | |
| XM_011534799.2:c.1377T>G | XP_011533101.1:p.Ser459= | |
| XR_002957338.1:n.1581T>G | ||
| XR_002957339.1:n.1581T>G | ||
| XR_941395.2:n.1581T>G | ||
| NM_006231.4:c.1377T>G MANE Select | NP_006222.2:p.Ser459= |