Linked Data
ClinVar Variation Id:
251651
ClinVar RCV Id:
RCV000238289
dbSNP Id:
rs753248521
ExAC:
19:11222199 A / G
gnomAD v2:
19-11222199-A-G
PubMed:
PMID:16250003
ERepo:
CA031903/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111523A>G , CM000681.2:g.11111523A>G | GRCh38 |
| NC_000019.9:g.11222199A>G , CM000681.1:g.11222199A>G | GRCh37 |
| NC_000019.8:g.11083199A>G | NCBI36 |
| NG_009060.1:g.27143A>G , LRG_274:g.27143A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1328A>G | ENSP00000252444.6:p.Glu443Gly | |
| ENST00000559340.2:c.1070A>G | ENSP00000453696.2:p.Glu357Gly | |
| ENST00000560467.2:c.950A>G | ENSP00000453513.2:p.Glu317Gly | |
| ENST00000558518.6:c.1070A>G MANE Select | ENSP00000454071.1:p.Glu357Gly | |
| ENST00000252444.9:c.1324A>G | ||
| ENST00000455727.6:c.566A>G | ENSP00000397829.2:p.Glu189Gly | |
| ENST00000535915.5:c.947A>G | ENSP00000440520.1:p.Glu316Gly | |
| ENST00000545707.5:c.689A>G | ENSP00000437639.1:p.Glu230Gly | |
| ENST00000557933.5:c.1070A>G | ENSP00000453557.1:p.Glu357Gly | |
| ENST00000558013.5:c.1070A>G | ENSP00000453346.1:p.Glu357Gly | |
| ENST00000558518.5:c.1070A>G | ENSP00000454071.1:p.Glu357Gly | |
| ENST00000560173.1:n.69A>G | ||
| ENST00000560467.1:c.550A>G | ||
| NM_000527.4:c.1070A>G , LRG_274t1:c.1070A>G | NP_000518.1:p.Glu357Gly | |
| NM_001195798.1:c.1070A>G | NP_001182727.1:p.Glu357Gly | |
| NM_001195799.1:c.947A>G | NP_001182728.1:p.Glu316Gly | |
| NM_001195800.1:c.566A>G | NP_001182729.1:p.Glu189Gly | |
| NM_001195803.1:c.689A>G | NP_001182732.1:p.Glu230Gly | |
| XM_011528010.1:c.1070A>G | XP_011526312.1:p.Glu357Gly | |
| XM_011528011.1:c.689A>G | XP_011526313.1:p.Glu230Gly | |
| XR_244074.2:n.1220A>G | ||
| XM_011528010.2:c.1070A>G | XP_011526312.1:p.Glu357Gly | |
| XR_001753685.2:n.1187A>G | ||
| XR_001753686.2:n.1187A>G | ||
| NM_000527.5:c.1070A>G MANE Select | NP_000518.1:p.Glu357Gly | |
| NM_001195798.2:c.1070A>G | NP_001182727.1:p.Glu357Gly | |
| NM_001195799.2:c.947A>G | NP_001182728.1:p.Glu316Gly | |
| NM_001195800.2:c.566A>G | NP_001182729.1:p.Glu189Gly | |
| NM_001195803.2:c.689A>G | NP_001182732.1:p.Glu230Gly |