Linked Data
ClinVar Variation Id:
252182
ClinVar RCV Id:
RCV000237900
dbSNP Id:
rs879255117
PubMed:
PMID:16389549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120418dup , CM000681.2:g.11120418dup | GRCh38 |
| NC_000019.9:g.11231094dup , CM000681.1:g.11231094dup | GRCh37 |
| NC_000019.8:g.11092094dup | NCBI36 |
| NG_009060.1:g.36038dup , LRG_274:g.36038dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2294dup | ENSP00000252444.6:p.Tyr765Ter | |
| ENST00000559340.2:c.*105dup | ENSP00000453696.2:n.*105dup | |
| ENST00000560467.2:c.1916dup | ENSP00000453513.2:p.Tyr639Ter | |
| ENST00000558518.6:c.2036dup MANE Select | ENSP00000454071.1:p.Tyr679Ter | |
| ENST00000252444.9:c.2290dup | ||
| ENST00000455727.6:c.1532dup | ENSP00000397829.2:p.Tyr511Ter | |
| ENST00000535915.5:c.1913dup | ENSP00000440520.1:p.Tyr638Ter | |
| ENST00000545707.5:c.1606+185dup | ENSP00000437639.1:n.1606+185dup | |
| ENST00000557933.5:c.2036dup | ENSP00000453557.1:p.Tyr679Ter | |
| ENST00000558013.5:c.2036dup | ENSP00000453346.1:p.Tyr679Ter | |
| ENST00000558518.5:c.2036dup | ENSP00000454071.1:p.Tyr679Ter | |
| NM_000527.4:c.2036dup , LRG_274t1:c.2036dup | NP_000518.1:p.Tyr679Ter | |
| NM_001195798.1:c.2036dup | NP_001182727.1:p.Tyr679Ter | |
| NM_001195799.1:c.1913dup | NP_001182728.1:p.Tyr638Ter | |
| NM_001195800.1:c.1532dup | NP_001182729.1:p.Tyr511Ter | |
| NM_001195803.1:c.1606+185dup | NP_001182732.1:n.1606+185dup | |
| XM_011528010.1:c.2036dup | XP_011526312.1:p.Tyr679Ter | |
| XM_011528011.1:c.1655dup | XP_011526313.1:p.Tyr552Ter | |
| XR_244074.2:n.2046dup | ||
| XM_011528010.2:c.2036dup | XP_011526312.1:p.Tyr679Ter | |
| XR_001753685.2:n.2153dup | ||
| XR_001753686.2:n.2013dup | ||
| NM_000527.5:c.2036dup MANE Select | NP_000518.1:p.Tyr679Ter | |
| NM_001195798.2:c.2036dup | NP_001182727.1:p.Tyr679Ter | |
| NM_001195799.2:c.1913dup | NP_001182728.1:p.Tyr638Ter | |
| NM_001195800.2:c.1532dup | NP_001182729.1:p.Tyr511Ter | |
| NM_001195803.2:c.1606+185dup | NP_001182732.1:n.1606+185dup |