ClinGen Classification:
Classification
Uncertain Significance
Condition
hypercholesterolemia, familial
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001873 (AFR)
Genomes Max Group AF
0.00014845 (AFR)
Exomes Max Group AF
0.00016125 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113679G>A , CM000681.2:g.11113679G>A | GRCh38 |
| NC_000019.9:g.11224355G>A , CM000681.1:g.11224355G>A | GRCh37 |
| NC_000019.8:g.11085355G>A | NCBI36 |
| NG_009060.1:g.29299G>A , LRG_274:g.29299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1761G>A | ENSP00000252444.6:p.Ala587= | |
| ENST00000559340.2:c.1503G>A | ENSP00000453696.2:p.Ala501= | |
| ENST00000560467.2:c.1383G>A | ENSP00000453513.2:p.Ala461= | |
| ENST00000558518.6:c.1503G>A MANE Select | ENSP00000454071.1:p.Ala501= | |
| ENST00000252444.9:c.1757G>A | ||
| ENST00000455727.6:c.999G>A | ENSP00000397829.2:p.Ala333= | |
| ENST00000535915.5:c.1380G>A | ENSP00000440520.1:p.Ala460= | |
| ENST00000545707.5:c.1122G>A | ENSP00000437639.1:p.Ala374= | |
| ENST00000557933.5:c.1503G>A | ENSP00000453557.1:p.Ala501= | |
| ENST00000558013.5:c.1503G>A | ENSP00000453346.1:p.Ala501= | |
| ENST00000558518.5:c.1503G>A | ENSP00000454071.1:p.Ala501= | |
| ENST00000559340.1:c.224G>A | ||
| NM_000527.4:c.1503G>A , LRG_274t1:c.1503G>A | NP_000518.1:p.Ala501= | |
| NM_001195798.1:c.1503G>A | NP_001182727.1:p.Ala501= | |
| NM_001195799.1:c.1380G>A | NP_001182728.1:p.Ala460= | |
| NM_001195800.1:c.999G>A | NP_001182729.1:p.Ala333= | |
| NM_001195803.1:c.1122G>A | NP_001182732.1:p.Ala374= | |
| XM_011528010.1:c.1503G>A | XP_011526312.1:p.Ala501= | |
| XM_011528011.1:c.1122G>A | XP_011526313.1:p.Ala374= | |
| XR_244074.2:n.1653G>A | ||
| XM_011528010.2:c.1503G>A | XP_011526312.1:p.Ala501= | |
| XR_001753685.2:n.1620G>A | ||
| XR_001753686.2:n.1620G>A | ||
| NM_000527.5:c.1503G>A MANE Select | NP_000518.1:p.Ala501= | |
| NM_001195798.2:c.1503G>A | NP_001182727.1:p.Ala501= | |
| NM_001195799.2:c.1380G>A | NP_001182728.1:p.Ala460= | |
| NM_001195800.2:c.999G>A | NP_001182729.1:p.Ala333= | |
| NM_001195803.2:c.1122G>A | NP_001182732.1:p.Ala374= |