Linked Data
ClinVar Variation Id:
369849
dbSNP Id:
rs1057516127
gnomAD v2:
19-11233876-G-T
gnomAD v3:
19-11123200-G-T
gnomAD v4:
19-11123200-G-T
PubMed:
PMID:27765764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123200G>T , CM000681.2:g.11123200G>T | GRCh38 |
| NC_000019.9:g.11233876G>T , CM000681.1:g.11233876G>T | GRCh37 |
| NC_000019.8:g.11094876G>T | NCBI36 |
| NG_009060.1:g.38820G>T , LRG_274:g.38820G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2425G>T | ENSP00000252444.6:p.Glu809Ter | |
| ENST00000559340.2:c.*236G>T | ENSP00000453696.2:n.*236G>T | |
| ENST00000560467.2:c.2047G>T | ENSP00000453513.2:p.Glu683Ter | |
| ENST00000558518.6:c.2167G>T MANE Select | ENSP00000454071.1:p.Glu723Ter | |
| ENST00000252444.9:c.2421G>T | ||
| ENST00000455727.6:c.1663G>T | ENSP00000397829.2:p.Glu555Ter | |
| ENST00000535915.5:c.2044G>T | ENSP00000440520.1:p.Glu682Ter | |
| ENST00000545707.5:c.1633G>T | ENSP00000437639.1:p.Glu545Ter | |
| ENST00000557933.5:c.2167G>T | ENSP00000453557.1:p.Glu723Ter | |
| ENST00000558013.5:c.2167G>T | ENSP00000453346.1:p.Glu723Ter | |
| ENST00000558518.5:c.2167G>T | ENSP00000454071.1:p.Glu723Ter | |
| NM_000527.4:c.2167G>T , LRG_274t1:c.2167G>T | NP_000518.1:p.Glu723Ter | |
| NM_001195798.1:c.2167G>T | NP_001182727.1:p.Glu723Ter | |
| NM_001195799.1:c.2044G>T | NP_001182728.1:p.Glu682Ter | |
| NM_001195800.1:c.1663G>T | NP_001182729.1:p.Glu555Ter | |
| NM_001195803.1:c.1633G>T | NP_001182732.1:p.Glu545Ter | |
| XM_011528010.1:c.2167G>T | XP_011526312.1:p.Glu723Ter | |
| XM_011528011.1:c.1786G>T | XP_011526313.1:p.Glu596Ter | |
| XR_244074.2:n.2177G>T | ||
| XM_011528010.2:c.2167G>T | XP_011526312.1:p.Glu723Ter | |
| XR_001753685.2:n.2501G>T | ||
| XR_001753686.2:n.2144G>T | ||
| NM_000527.5:c.2167G>T MANE Select | NP_000518.1:p.Glu723Ter | |
| NM_001195798.2:c.2167G>T | NP_001182727.1:p.Glu723Ter | |
| NM_001195799.2:c.2044G>T | NP_001182728.1:p.Glu682Ter | |
| NM_001195800.2:c.1663G>T | NP_001182729.1:p.Glu555Ter | |
| NM_001195803.2:c.1633G>T | NP_001182732.1:p.Glu545Ter |