Linked Data
ClinVar Variation Id:
17556
ClinVar RCV Id:
RCV000019111
dbSNP Id:
rs121912798
PubMed:
PMID:18653847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174811538C>T , CM000664.2:g.174811538C>T | GRCh38 |
| NC_000002.11:g.175676266C>T , CM000664.1:g.175676266C>T | GRCh37 |
| NC_000002.10:g.175384512C>T | NCBI36 |
| NG_012642.1:g.198905G>A | |
| NG_012642.2:g.198905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.562G>A | ENSP00000295497.7:p.Glu188Lys | |
| ENST00000444394.7:c.562G>A | ENSP00000411911.2:p.Glu188Lys | |
| ENST00000295497.12:c.562G>A | ENSP00000295497.7:p.Glu188Lys | |
| ENST00000409089.7:c.313G>A | ENSP00000386322.3:p.Glu105Lys | |
| ENST00000409900.9:c.937G>A MANE Select | ENSP00000386741.4:p.Glu313Lys | |
| ENST00000413882.6:c.391G>A | ENSP00000410496.2:p.Glu131Lys | |
| ENST00000425395.6:c.*384G>A | ENSP00000405270.2:n.*384G>A | |
| ENST00000443238.6:c.415G>A | ENSP00000409798.2:p.Glu139Lys | |
| ENST00000444394.6:c.562G>A | ENSP00000411911.2:p.Glu188Lys | |
| ENST00000488080.6:n.580G>A | ||
| ENST00000650731.1:c.262G>A | ENSP00000499146.1:p.Glu88Lys | |
| ENST00000650938.1:c.461G>A | ||
| ENST00000651246.1:c.529G>A | ENSP00000498484.1:p.Glu177Lys | |
| ENST00000651501.1:c.*384G>A | ENSP00000498894.1:n.*384G>A | |
| ENST00000651717.1:c.*213G>A | ENSP00000499124.1:n.*213G>A | |
| ENST00000652036.1:c.613G>A | ENSP00000499139.1:p.Glu205Lys | |
| ENST00000295497.11:c.562G>A | ENSP00000295497.7:p.Glu188Lys | |
| ENST00000409089.6:c.313G>A | ENSP00000386322.2:p.Glu105Lys | |
| ENST00000409156.7:c.859G>A | ENSP00000386470.3:p.Glu287Lys | |
| ENST00000409597.5:c.385G>A | ENSP00000386469.1:p.Glu129Lys | |
| ENST00000409900.7:c.937G>A | ENSP00000386741.3:p.Glu313Lys | |
| ENST00000413882.5:c.391G>A | ENSP00000410496.1:p.Glu131Lys | |
| ENST00000425395.5:c.*488G>A | ENSP00000405270.1:n.*488G>A | |
| ENST00000443238.5:c.415G>A | ENSP00000409798.1:p.Glu139Lys | |
| ENST00000444394.5:c.262G>A | ENSP00000411911.1:p.Glu88Lys | |
| ENST00000488080.5:n.788G>A | ||
| ENST00000491801.1:n.96G>A | ||
| NM_001025201.3:c.859G>A | NP_001020372.2:p.Glu287Lys | |
| NM_001206602.1:c.562G>A | NP_001193531.1:p.Glu188Lys | |
| NM_001822.5:c.937G>A | NP_001813.1:p.Glu313Lys | |
| NR_038133.1:n.803G>A | ||
| NM_001025201.4:c.859G>A | NP_001020372.2:p.Glu287Lys | |
| NM_001206602.2:c.562G>A | NP_001193531.1:p.Glu188Lys | |
| NM_001371513.1:c.937G>A | NP_001358442.1:p.Glu313Lys | |
| NM_001371514.1:c.988G>A | NP_001358443.1:p.Glu330Lys | |
| NM_001822.7:c.937G>A MANE Select | NP_001813.1:p.Glu313Lys | |
| NR_038133.2:n.805G>A |