Linked Data
ClinVar Variation Id:
251649
dbSNP Id:
rs879254781
gnomAD v3:
19-11111522-G-A
gnomAD v4:
19-11111522-G-A
ERepo:
CA10585290/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111522G>A , CM000681.2:g.11111522G>A | GRCh38 |
| NC_000019.9:g.11222198G>A , CM000681.1:g.11222198G>A | GRCh37 |
| NC_000019.8:g.11083198G>A | NCBI36 |
| NG_009060.1:g.27142G>A , LRG_274:g.27142G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1327G>A | ENSP00000252444.6:p.Glu443Lys | |
| ENST00000559340.2:c.1069G>A | ENSP00000453696.2:p.Glu357Lys | |
| ENST00000560467.2:c.949G>A | ENSP00000453513.2:p.Glu317Lys | |
| ENST00000558518.6:c.1069G>A MANE Select | ENSP00000454071.1:p.Glu357Lys | |
| ENST00000252444.9:c.1323G>A | ||
| ENST00000455727.6:c.565G>A | ENSP00000397829.2:p.Glu189Lys | |
| ENST00000535915.5:c.946G>A | ENSP00000440520.1:p.Glu316Lys | |
| ENST00000545707.5:c.688G>A | ENSP00000437639.1:p.Glu230Lys | |
| ENST00000557933.5:c.1069G>A | ENSP00000453557.1:p.Glu357Lys | |
| ENST00000558013.5:c.1069G>A | ENSP00000453346.1:p.Glu357Lys | |
| ENST00000558518.5:c.1069G>A | ENSP00000454071.1:p.Glu357Lys | |
| ENST00000560173.1:n.68G>A | ||
| ENST00000560467.1:c.549G>A | ||
| NM_000527.4:c.1069G>A , LRG_274t1:c.1069G>A | NP_000518.1:p.Glu357Lys | |
| NM_001195798.1:c.1069G>A | NP_001182727.1:p.Glu357Lys | |
| NM_001195799.1:c.946G>A | NP_001182728.1:p.Glu316Lys | |
| NM_001195800.1:c.565G>A | NP_001182729.1:p.Glu189Lys | |
| NM_001195803.1:c.688G>A | NP_001182732.1:p.Glu230Lys | |
| XM_011528010.1:c.1069G>A | XP_011526312.1:p.Glu357Lys | |
| XM_011528011.1:c.688G>A | XP_011526313.1:p.Glu230Lys | |
| XR_244074.2:n.1219G>A | ||
| XM_011528010.2:c.1069G>A | XP_011526312.1:p.Glu357Lys | |
| XR_001753685.2:n.1186G>A | ||
| XR_001753686.2:n.1186G>A | ||
| NM_000527.5:c.1069G>A MANE Select | NP_000518.1:p.Glu357Lys | |
| NM_001195798.2:c.1069G>A | NP_001182727.1:p.Glu357Lys | |
| NM_001195799.2:c.946G>A | NP_001182728.1:p.Glu316Lys | |
| NM_001195800.2:c.565G>A | NP_001182729.1:p.Glu189Lys | |
| NM_001195803.2:c.688G>A | NP_001182732.1:p.Glu230Lys |