Linked Data
ClinVar Variation Id:
40706
ClinVar RCV Id:
RCV000038535
RCV000207492
RCV000471633
RCV000763085
RCV001813296
RCV002453285
RCV003421942
dbSNP Id:
rs397517159
COSMIC:
COSM419169
ERepo:
CA261734/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39007168C>T , CM000664.2:g.39007168C>T | GRCh38 |
| NC_000002.11:g.39234309C>T , CM000664.1:g.39234309C>T | GRCh37 |
| NC_000002.10:g.39087813C>T | NCBI36 |
| NG_007530.1:g.118296G>A , LRG_754:g.118296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.1303G>A | ENSP00000509424.1:p.Glu435Lys | |
| ENST00000689668.1:n.2543G>A | ||
| ENST00000690876.1:c.2425G>A | ENSP00000508955.1:p.Glu809Lys | |
| ENST00000691229.1:c.2305G>A | ENSP00000510437.1:p.Glu769Lys | |
| ENST00000692089.1:c.2425G>A | ENSP00000508626.1:p.Glu809Lys | |
| ENST00000692227.1:c.232G>A | ENSP00000509138.1:p.Glu78Lys | |
| ENST00000692620.1:c.*123G>A | ENSP00000509311.1:n.*123G>A | |
| ENST00000402219.8:c.2536G>A MANE Select | ENSP00000384675.2:p.Glu846Lys | |
| ENST00000395038.6:c.2536G>A | ENSP00000378479.2:p.Glu846Lys | |
| ENST00000402219.6:c.2536G>A | ENSP00000384675.2:p.Glu846Lys | |
| ENST00000426016.5:c.2536G>A | ENSP00000387784.1:p.Glu846Lys | |
| ENST00000474390.1:n.332G>A | ||
| NM_005633.3:c.2536G>A , LRG_754t1:c.2536G>A | NP_005624.2:p.Glu846Lys | |
| XM_005264515.3:c.2536G>A | XP_005264572.1:p.Glu846Lys | |
| XM_011533060.1:c.2629G>A | XP_011531362.1:p.Glu877Lys | |
| XM_011533061.1:c.2629G>A | XP_011531363.1:p.Glu877Lys | |
| XM_011533062.1:c.2515G>A | XP_011531364.1:p.Glu839Lys | |
| XM_011533063.1:c.2512G>A | XP_011531365.1:p.Glu838Lys | |
| XM_011533064.1:c.2365G>A | XP_011531366.1:p.Glu789Lys | |
| XM_011533065.1:c.2629G>A | XP_011531367.1:p.Glu877Lys | |
| XM_011533066.1:c.1471G>A | XP_011531368.1:p.Glu491Lys | |
| XM_005264515.4:c.2536G>A | XP_005264572.1:p.Glu846Lys | |
| XM_011533062.2:c.2515G>A | XP_011531364.1:p.Glu839Lys | |
| XM_011533064.2:c.2365G>A | XP_011531366.1:p.Glu789Lys | |
| NM_001382394.1:c.2515G>A | NP_001369323.1:p.Glu839Lys | |
| NM_001382395.1:c.2536G>A | NP_001369324.1:p.Glu846Lys | |
| NM_005633.4:c.2536G>A MANE Select | NP_005624.2:p.Glu846Lys |