Linked Data
ClinVar Variation Id:
3953
ClinVar RCV Id:
RCV000004159
dbSNP Id:
rs121907949
PubMed:
PMID:1363816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614439T>A , CM000673.2:g.57614439T>A | GRCh38 |
| NC_000011.9:g.57381912T>A , CM000673.1:g.57381912T>A | GRCh37 |
| NC_000011.8:g.57138488T>A | NCBI36 |
| NG_009625.1:g.21886T>A , LRG_105:g.21886T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278407.9:c.1361T>A MANE Select | ENSP00000278407.4:p.Val454Glu | |
| ENST00000528996.2:c.*258T>A | ENSP00000431226.2:n.*258T>A | |
| ENST00000531605.2:c.*1137T>A | ENSP00000503752.1:n.*1137T>A | |
| ENST00000619430.2:c.1157T>A | ENSP00000478572.2:p.Val386Glu | |
| ENST00000676670.1:c.1361T>A | ENSP00000504807.1:p.Val454Glu | |
| ENST00000676741.1:n.2443T>A | ||
| ENST00000677624.1:c.*781T>A | ENSP00000503979.1:n.*781T>A | |
| ENST00000677625.1:c.1307T>A | ENSP00000502857.1:p.Val436Glu | |
| ENST00000677856.1:n.1614T>A | ||
| ENST00000677915.1:c.*258T>A | ENSP00000503118.1:n.*258T>A | |
| ENST00000678533.1:c.*915T>A | ENSP00000503873.1:n.*915T>A | |
| ENST00000678592.1:c.*301T>A | ENSP00000504424.1:n.*301T>A | |
| ENST00000278407.8:c.1361T>A | ENSP00000278407.4:p.Val454Glu | |
| ENST00000340687.10:c.1250T>A | ENSP00000341861.6:p.Val417Glu | |
| ENST00000378323.8:c.1376T>A | ENSP00000367574.4:p.Val459Glu | |
| ENST00000378324.6:c.1205T>A | ENSP00000367575.2:p.Val402Glu | |
| ENST00000403558.1:c.1490T>A | ENSP00000384420.1:p.Val497Glu | |
| ENST00000528996.1:c.562T>A | ENSP00000431226.1:n.562T>A | |
| ENST00000530113.1:n.818T>A | ||
| ENST00000531133.5:c.862T>A | ENSP00000435431.1:n.862T>A | |
| ENST00000531797.5:c.*386T>A | ENSP00000432554.1:n.*386T>A | |
| ENST00000619430.1:c.492T>A | ENSP00000478572.1:n.492T>A | |
| NM_000062.2:c.1361T>A , LRG_105t1:c.1361T>A | NP_000053.2:p.Val454Glu | |
| NM_001032295.1:c.1361T>A | NP_001027466.1:p.Val454Glu | |
| NM_000062.3:c.1361T>A MANE Select | NP_000053.2:p.Val454Glu | |
| NM_001032295.2:c.1361T>A | NP_001027466.1:p.Val454Glu |