Linked Data
ClinVar Variation Id:
755173
dbSNP Id:
rs1593072230
MyVariant Identifiers:
chr12:g.133249777G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673191G>A , CM000674.2:g.132673191G>A | GRCh38 |
| NC_000012.11:g.133249777G>A , CM000674.1:g.133249777G>A | GRCh37 |
| NC_000012.10:g.131759850G>A | NCBI36 |
| NG_033840.1:g.19334C>T , LRG_789:g.19334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.154C>T | ||
| ENST00000545015.2:n.1473C>T | ||
| ENST00000699982.1:c.1300C>T | ||
| ENST00000699983.1:c.1300C>T | ||
| ENST00000699984.1:c.1300C>T | ||
| ENST00000320574.10:c.1446C>T MANE Select | ENSP00000322570.5:p.Cys482= | |
| ENST00000672742.1:c.*948C>T | ENSP00000500279.1:n.*948C>T | |
| ENST00000320574.9:c.1446C>T | ENSP00000322570.5:p.Cys482= | |
| ENST00000535270.5:c.1365C>T | ENSP00000445753.1:p.Cys455= | |
| ENST00000535934.2:n.1321C>T | ||
| ENST00000537064.5:c.*493C>T | ENSP00000442578.1:n.*493C>T | |
| ENST00000539215.5:n.154C>T | ||
| ENST00000545015.1:n.43C>T | ||
| NM_006231.3:c.1446C>T , LRG_789t1:c.1446C>T | NP_006222.2:p.Cys482= | |
| XM_011534795.1:c.1446C>T | XP_011533097.1:p.Cys482= | |
| XM_011534796.1:c.1317C>T | XP_011533098.1:p.Cys439= | |
| XM_011534797.1:c.525C>T | XP_011533099.1:p.Cys175= | |
| XM_011534798.1:c.108C>T | XP_011533100.1:p.Cys36= | |
| XM_011534799.1:c.1446C>T | XP_011533101.1:p.Cys482= | |
| XM_011534800.1:c.1446C>T | XP_011533102.1:p.Cys482= | |
| XM_011534801.1:c.1446C>T | XP_011533103.1:p.Cys482= | |
| XR_941395.1:n.1655C>T | ||
| XM_011534795.3:c.1446C>T | XP_011533097.1:p.Cys482= | |
| XM_011534797.3:c.525C>T | XP_011533099.1:p.Cys175= | |
| XM_011534799.2:c.1446C>T | XP_011533101.1:p.Cys482= | |
| XR_002957338.1:n.1650C>T | ||
| XR_002957339.1:n.1650C>T | ||
| XR_941395.2:n.1650C>T | ||
| NM_006231.4:c.1446C>T MANE Select | NP_006222.2:p.Cys482= |