Linked Data
ClinVar Variation Id:
251862
ClinVar RCV Id:
RCV000238005
dbSNP Id:
rs879254916
PubMed:
PMID:20236128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113647dup , CM000681.2:g.11113647dup | GRCh38 |
| NC_000019.9:g.11224323dup , CM000681.1:g.11224323dup | GRCh37 |
| NC_000019.8:g.11085323dup | NCBI36 |
| NG_009060.1:g.29267dup , LRG_274:g.29267dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1729dup | ENSP00000252444.6:p.Thr577AsnfsTer? | |
| ENST00000559340.2:c.1471dup | ENSP00000453696.2:p.Thr491AsnfsTer? | |
| ENST00000560467.2:c.1351dup | ENSP00000453513.2:p.Thr451AsnfsTer? | |
| ENST00000558518.6:c.1471dup MANE Select | ENSP00000454071.1:p.Thr491AsnfsTer? | |
| ENST00000252444.9:c.1725dup | ||
| ENST00000455727.6:c.967dup | ENSP00000397829.2:p.Thr323AsnfsTer? | |
| ENST00000535915.5:c.1348dup | ENSP00000440520.1:p.Thr450AsnfsTer? | |
| ENST00000545707.5:c.1090dup | ENSP00000437639.1:p.Thr364AsnfsTer? | |
| ENST00000557933.5:c.1471dup | ENSP00000453557.1:p.Thr491AsnfsTer? | |
| ENST00000558013.5:c.1471dup | ENSP00000453346.1:p.Thr491AsnfsTer? | |
| ENST00000558518.5:c.1471dup | ENSP00000454071.1:p.Thr491AsnfsTer? | |
| ENST00000559340.1:c.192dup | ||
| NM_000527.4:c.1471dup , LRG_274t1:c.1471dup | NP_000518.1:p.Thr491AsnfsTer? | |
| NM_001195798.1:c.1471dup | NP_001182727.1:p.Thr491AsnfsTer? | |
| NM_001195799.1:c.1348dup | NP_001182728.1:p.Thr450AsnfsTer? | |
| NM_001195800.1:c.967dup | NP_001182729.1:p.Thr323AsnfsTer? | |
| NM_001195803.1:c.1090dup | NP_001182732.1:p.Thr364AsnfsTer? | |
| XM_011528010.1:c.1471dup | XP_011526312.1:p.Thr491AsnfsTer? | |
| XM_011528011.1:c.1090dup | XP_011526313.1:p.Thr364AsnfsTer? | |
| XR_244074.2:n.1621dup | ||
| XM_011528010.2:c.1471dup | XP_011526312.1:p.Thr491AsnfsTer? | |
| XR_001753685.2:n.1588dup | ||
| XR_001753686.2:n.1588dup | ||
| NM_000527.5:c.1471dup MANE Select | NP_000518.1:p.Thr491AsnfsTer? | |
| NM_001195798.2:c.1471dup | NP_001182727.1:p.Thr491AsnfsTer? | |
| NM_001195799.2:c.1348dup | NP_001182728.1:p.Thr450AsnfsTer? | |
| NM_001195800.2:c.967dup | NP_001182729.1:p.Thr323AsnfsTer? | |
| NM_001195803.2:c.1090dup | NP_001182732.1:p.Thr364AsnfsTer? |