Linked Data
ClinVar Variation Id:
41899
ClinVar RCV Id:
RCV000034825
dbSNP Id:
rs387907325
PubMed:
PMID:22949511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41819560dup , CM000679.2:g.41819560dup | GRCh38 |
| NC_000017.10:g.39975812dup , CM000679.1:g.39975812dup | GRCh37 |
| NC_000017.9:g.37229338dup | NCBI36 |
| NG_015860.1:g.11851dup , LRG_12:g.11851dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706683.1:c.728-709dup | ENSP00000516497.1:n.728-709dup | |
| ENST00000321562.9:c.948dup MANE Select | ENSP00000317232.4:p.Ile317TyrfsTer? | |
| ENST00000321562.8:c.948dup | ENSP00000317232.4:p.Ile317TyrfsTer? | |
| ENST00000455106.1:c.176dup | ||
| ENST00000487489.1:n.561dup | ||
| ENST00000489591.5:c.*358dup | ENSP00000466352.1:n.*358dup | |
| NM_021939.3:c.948dup , LRG_12t1:c.948dup | NP_068758.3:p.Ile317TyrfsTer? | |
| XM_011525099.1:c.948dup | XP_011523401.1:p.Ile317TyrfsTer? | |
| XM_011525100.1:c.675dup | XP_011523402.1:p.Ile226TyrfsTer? | |
| XM_011525099.3:c.948dup | XP_011523401.1:p.Ile317TyrfsTer? | |
| XM_011525100.2:c.675dup | XP_011523402.1:p.Ile226TyrfsTer? | |
| NM_021939.4:c.948dup MANE Select | NP_068758.3:p.Ile317TyrfsTer? |