Linked Data
ClinVar Variation Id:
251691
dbSNP Id:
rs879254808
gnomAD v3:
19-11111606-C-G
gnomAD v4:
19-11111606-C-G
ERepo:
CA10585330/MONDO:0007750/013
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111606C>G , CM000681.2:g.11111606C>G | GRCh38 |
| NC_000019.9:g.11222282C>G , CM000681.1:g.11222282C>G | GRCh37 |
| NC_000019.8:g.11083282C>G | NCBI36 |
| NG_009060.1:g.27226C>G , LRG_274:g.27226C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1411C>G | ENSP00000252444.6:p.Leu471Val | |
| ENST00000559340.2:c.1153C>G | ENSP00000453696.2:p.Leu385Val | |
| ENST00000560467.2:c.1033C>G | ENSP00000453513.2:p.Leu345Val | |
| ENST00000558518.6:c.1153C>G MANE Select | ENSP00000454071.1:p.Leu385Val | |
| ENST00000252444.9:c.1407C>G | ||
| ENST00000455727.6:c.649C>G | ENSP00000397829.2:p.Leu217Val | |
| ENST00000535915.5:c.1030C>G | ENSP00000440520.1:p.Leu344Val | |
| ENST00000545707.5:c.772C>G | ENSP00000437639.1:p.Leu258Val | |
| ENST00000557933.5:c.1153C>G | ENSP00000453557.1:p.Leu385Val | |
| ENST00000558013.5:c.1153C>G | ENSP00000453346.1:p.Leu385Val | |
| ENST00000558518.5:c.1153C>G | ENSP00000454071.1:p.Leu385Val | |
| ENST00000560173.1:n.152C>G | ||
| ENST00000560467.1:c.633C>G | ||
| NM_000527.4:c.1153C>G , LRG_274t1:c.1153C>G | NP_000518.1:p.Leu385Val | |
| NM_001195798.1:c.1153C>G | NP_001182727.1:p.Leu385Val | |
| NM_001195799.1:c.1030C>G | NP_001182728.1:p.Leu344Val | |
| NM_001195800.1:c.649C>G | NP_001182729.1:p.Leu217Val | |
| NM_001195803.1:c.772C>G | NP_001182732.1:p.Leu258Val | |
| XM_011528010.1:c.1153C>G | XP_011526312.1:p.Leu385Val | |
| XM_011528011.1:c.772C>G | XP_011526313.1:p.Leu258Val | |
| XR_244074.2:n.1303C>G | ||
| XM_011528010.2:c.1153C>G | XP_011526312.1:p.Leu385Val | |
| XR_001753685.2:n.1270C>G | ||
| XR_001753686.2:n.1270C>G | ||
| NM_000527.5:c.1153C>G MANE Select | NP_000518.1:p.Leu385Val | |
| NM_001195798.2:c.1153C>G | NP_001182727.1:p.Leu385Val | |
| NM_001195799.2:c.1030C>G | NP_001182728.1:p.Leu344Val | |
| NM_001195800.2:c.649C>G | NP_001182729.1:p.Leu217Val | |
| NM_001195803.2:c.772C>G | NP_001182732.1:p.Leu258Val |