Linked Data
ClinVar Variation Id:
161287
dbSNP Id:
rs139043155
ExAC:
19:11217344 T / A
gnomAD v2:
19-11217344-T-A
gnomAD v3:
19-11106668-T-A
gnomAD v4:
19-11106668-T-A
PubMed:
PMID:1301956
PMID:1734910
PMID:10657581
PMID:11196104
PMID:11754108
PMID:11810272
PMID:15199436
PMID:16542394
PMID:20145306
PMID:20663204
PMID:21310417
PMID:22698793
PMID:23375686
PMID:25487149
PMID:25637381
PMID:25647241
PMID:26036859
PMID:26892515
PMID:27765764
ERepo:
CA023765/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11106668T>A , CM000681.2:g.11106668T>A | GRCh38 |
| NC_000019.9:g.11217344T>A , CM000681.1:g.11217344T>A | GRCh37 |
| NC_000019.8:g.11078344T>A | NCBI36 |
| NG_009060.1:g.22288T>A , LRG_274:g.22288T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1056T>A | ENSP00000252444.6:p.Asp352Glu | |
| ENST00000559340.2:c.798T>A | ENSP00000453696.2:p.Asp266Glu | |
| ENST00000560467.2:c.798T>A | ENSP00000453513.2:p.Asp266Glu | |
| ENST00000558518.6:c.798T>A MANE Select | ENSP00000454071.1:p.Asp266Glu | |
| ENST00000252444.9:c.1052T>A | ||
| ENST00000455727.6:c.314-724T>A | ENSP00000397829.2:n.314-724T>A | |
| ENST00000535915.5:c.675T>A | ENSP00000440520.1:p.Asp225Glu | |
| ENST00000545707.5:c.417T>A | ENSP00000437639.1:p.Asp139Glu | |
| ENST00000557933.5:c.798T>A | ENSP00000453557.1:p.Asp266Glu | |
| ENST00000558013.5:c.798T>A | ENSP00000453346.1:p.Asp266Glu | |
| ENST00000558518.5:c.798T>A | ENSP00000454071.1:p.Asp266Glu | |
| ENST00000558528.1:n.313T>A | ||
| ENST00000560467.1:c.398T>A | ||
| NM_000527.4:c.798T>A , LRG_274t1:c.798T>A | NP_000518.1:p.Asp266Glu | |
| NM_001195798.1:c.798T>A | NP_001182727.1:p.Asp266Glu | |
| NM_001195799.1:c.675T>A | NP_001182728.1:p.Asp225Glu | |
| NM_001195800.1:c.314-724T>A | NP_001182729.1:n.314-724T>A | |
| NM_001195803.1:c.417T>A | NP_001182732.1:p.Asp139Glu | |
| XM_011528010.1:c.798T>A | XP_011526312.1:p.Asp266Glu | |
| XM_011528011.1:c.417T>A | XP_011526313.1:p.Asp139Glu | |
| XR_244074.2:n.948T>A | ||
| XM_011528010.2:c.798T>A | XP_011526312.1:p.Asp266Glu | |
| XR_001753685.2:n.915T>A | ||
| XR_001753686.2:n.915T>A | ||
| NM_000527.5:c.798T>A MANE Select | NP_000518.1:p.Asp266Glu | |
| NM_001195798.2:c.798T>A | NP_001182727.1:p.Asp266Glu | |
| NM_001195799.2:c.675T>A | NP_001182728.1:p.Asp225Glu | |
| NM_001195800.2:c.314-724T>A | NP_001182729.1:n.314-724T>A | |
| NM_001195803.2:c.417T>A | NP_001182732.1:p.Asp139Glu |