Linked Data
ClinVar Variation Id:
2840324
ClinVar RCV Id:
RCV003716298
dbSNP Id:
rs2135997054
MyVariant Identifiers:
chr12:g.133249858C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673272C>T , CM000674.2:g.132673272C>T | GRCh38 |
| NC_000012.11:g.133249858C>T , CM000674.1:g.133249858C>T | GRCh37 |
| NC_000012.10:g.131759931C>T | NCBI36 |
| NG_033840.1:g.19253G>A , LRG_789:g.19253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.73G>A | ||
| ENST00000545015.2:n.1392G>A | ||
| ENST00000699982.1:c.1219G>A | ||
| ENST00000699983.1:c.1219G>A | ||
| ENST00000699984.1:c.1219G>A | ||
| ENST00000320574.10:c.1365G>A MANE Select | ENSP00000322570.5:p.Leu455= | |
| ENST00000672742.1:c.*867G>A | ENSP00000500279.1:n.*867G>A | |
| ENST00000320574.9:c.1365G>A | ENSP00000322570.5:p.Leu455= | |
| ENST00000535270.5:c.1284G>A | ENSP00000445753.1:p.Leu428= | |
| ENST00000535934.2:n.1240G>A | ||
| ENST00000537064.5:c.*412G>A | ENSP00000442578.1:n.*412G>A | |
| ENST00000539215.5:n.73G>A | ||
| NM_006231.3:c.1365G>A , LRG_789t1:c.1365G>A | NP_006222.2:p.Leu455= | |
| XM_011534795.1:c.1365G>A | XP_011533097.1:p.Leu455= | |
| XM_011534796.1:c.1236G>A | XP_011533098.1:p.Leu412= | |
| XM_011534797.1:c.444G>A | XP_011533099.1:p.Leu148= | |
| XM_011534798.1:c.27G>A | XP_011533100.1:p.Leu9= | |
| XM_011534799.1:c.1365G>A | XP_011533101.1:p.Leu455= | |
| XM_011534800.1:c.1365G>A | XP_011533102.1:p.Leu455= | |
| XM_011534801.1:c.1365G>A | XP_011533103.1:p.Leu455= | |
| XR_941395.1:n.1574G>A | ||
| XM_011534795.3:c.1365G>A | XP_011533097.1:p.Leu455= | |
| XM_011534797.3:c.444G>A | XP_011533099.1:p.Leu148= | |
| XM_011534799.2:c.1365G>A | XP_011533101.1:p.Leu455= | |
| XR_002957338.1:n.1569G>A | ||
| XR_002957339.1:n.1569G>A | ||
| XR_941395.2:n.1569G>A | ||
| NM_006231.4:c.1365G>A MANE Select | NP_006222.2:p.Leu455= |