Linked Data
ClinVar Variation Id:
3002187
ClinVar RCV Id:
RCV003865314
dbSNP Id:
rs879254571
gnomAD v4:
19-11105458-T-C
MyVariant Identifiers:
chr19:g.11216134T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105458T>C , CM000681.2:g.11105458T>C | GRCh38 |
| NC_000019.9:g.11216134T>C , CM000681.1:g.11216134T>C | GRCh37 |
| NC_000019.8:g.11077134T>C | NCBI36 |
| NG_009060.1:g.21078T>C , LRG_274:g.21078T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.810T>C | ENSP00000252444.6:p.Cys270= | |
| ENST00000559340.2:c.552T>C | ENSP00000453696.2:p.Cys184= | |
| ENST00000560467.2:c.552T>C | ENSP00000453513.2:p.Cys184= | |
| ENST00000558518.6:c.552T>C MANE Select | ENSP00000454071.1:p.Cys184= | |
| ENST00000252444.9:c.806T>C | ||
| ENST00000455727.6:c.314-1934T>C | ENSP00000397829.2:n.314-1934T>C | |
| ENST00000535915.5:c.429T>C | ENSP00000440520.1:p.Cys143= | |
| ENST00000545707.5:c.314-1107T>C | ENSP00000437639.1:n.314-1107T>C | |
| ENST00000557933.5:c.552T>C | ENSP00000453557.1:p.Cys184= | |
| ENST00000558013.5:c.552T>C | ENSP00000453346.1:p.Cys184= | |
| ENST00000558518.5:c.552T>C | ENSP00000454071.1:p.Cys184= | |
| ENST00000560467.1:c.152T>C | ||
| NM_000527.4:c.552T>C , LRG_274t1:c.552T>C | NP_000518.1:p.Cys184= | |
| NM_001195798.1:c.552T>C | NP_001182727.1:p.Cys184= | |
| NM_001195799.1:c.429T>C | NP_001182728.1:p.Cys143= | |
| NM_001195800.1:c.314-1934T>C | NP_001182729.1:n.314-1934T>C | |
| NM_001195803.1:c.314-1107T>C | NP_001182732.1:n.314-1107T>C | |
| XM_011528010.1:c.552T>C | XP_011526312.1:p.Cys184= | |
| XM_011528011.1:c.314-1107T>C | XP_011526313.1:n.314-1107T>C | |
| XR_244074.2:n.702T>C | ||
| XM_011528010.2:c.552T>C | XP_011526312.1:p.Cys184= | |
| XR_001753685.2:n.669T>C | ||
| XR_001753686.2:n.669T>C | ||
| NM_000527.5:c.552T>C MANE Select | NP_000518.1:p.Cys184= | |
| NM_001195798.2:c.552T>C | NP_001182727.1:p.Cys184= | |
| NM_001195799.2:c.429T>C | NP_001182728.1:p.Cys143= | |
| NM_001195800.2:c.314-1934T>C | NP_001182729.1:n.314-1934T>C | |
| NM_001195803.2:c.314-1107T>C | NP_001182732.1:n.314-1107T>C |