Linked Data
ClinVar Variation Id:
3746
ClinVar RCV Id:
RCV002354146
dbSNP Id:
rs121908043
gnomAD v2:
19-11223983-C-A
gnomAD v4:
19-11113307-C-A
PubMed:
PMID:17094996
PMID:17335829
PMID:18400033
PMID:19371225
PMID:20809525
PMID:21157333
PMID:21382890
PMID:25846081
PMID:25911074
PMID:28028493
ERepo:
CA023436/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113307C>A , CM000681.2:g.11113307C>A | GRCh38 |
| NC_000019.9:g.11223983C>A , CM000681.1:g.11223983C>A | GRCh37 |
| NC_000019.8:g.11084983C>A | NCBI36 |
| NG_009060.1:g.28927C>A , LRG_274:g.28927C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1474C>A | ENSP00000252444.6:p.Arg492= | |
| ENST00000559340.2:c.1216C>A | ENSP00000453696.2:p.Arg406= | |
| ENST00000560467.2:c.1096C>A | ENSP00000453513.2:p.Arg366= | |
| ENST00000558518.6:c.1216C>A MANE Select | ENSP00000454071.1:p.Arg406= | |
| ENST00000252444.9:c.1470C>A | ||
| ENST00000455727.6:c.712C>A | ENSP00000397829.2:p.Arg238= | |
| ENST00000535915.5:c.1093C>A | ENSP00000440520.1:p.Arg365= | |
| ENST00000545707.5:c.835C>A | ENSP00000437639.1:p.Arg279= | |
| ENST00000557933.5:c.1216C>A | ENSP00000453557.1:p.Arg406= | |
| ENST00000558013.5:c.1216C>A | ENSP00000453346.1:p.Arg406= | |
| ENST00000558518.5:c.1216C>A | ENSP00000454071.1:p.Arg406= | |
| ENST00000560173.1:n.215C>A | ||
| ENST00000560467.1:c.696C>A | ||
| NM_000527.4:c.1216C>A , LRG_274t1:c.1216C>A | NP_000518.1:p.Arg406= | |
| NM_001195798.1:c.1216C>A | NP_001182727.1:p.Arg406= | |
| NM_001195799.1:c.1093C>A | NP_001182728.1:p.Arg365= | |
| NM_001195800.1:c.712C>A | NP_001182729.1:p.Arg238= | |
| NM_001195803.1:c.835C>A | NP_001182732.1:p.Arg279= | |
| XM_011528010.1:c.1216C>A | XP_011526312.1:p.Arg406= | |
| XM_011528011.1:c.835C>A | XP_011526313.1:p.Arg279= | |
| XR_244074.2:n.1366C>A | ||
| XM_011528010.2:c.1216C>A | XP_011526312.1:p.Arg406= | |
| XR_001753685.2:n.1333C>A | ||
| XR_001753686.2:n.1333C>A | ||
| NM_000527.5:c.1216C>A MANE Select | NP_000518.1:p.Arg406= | |
| NM_001195798.2:c.1216C>A | NP_001182727.1:p.Arg406= | |
| NM_001195799.2:c.1093C>A | NP_001182728.1:p.Arg365= | |
| NM_001195800.2:c.712C>A | NP_001182729.1:p.Arg238= | |
| NM_001195803.2:c.835C>A | NP_001182732.1:p.Arg279= |