Linked Data
ClinVar Variation Id:
39627
ClinVar RCV Id:
RCV000032827
dbSNP Id:
rs2139484859
PubMed:
PMID:23160955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21409975dup , CM000676.2:g.21409975dup | GRCh38 |
| NC_000014.8:g.21878134dup , CM000676.1:g.21878134dup | GRCh37 |
| NC_000014.7:g.20947974dup | NCBI36 |
| NG_021249.1:g.32324dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1403dup | ENSP00000406288.3:p.Tyr468Ter | |
| ENST00000555962.6:c.-110-6933dup | ENSP00000495174.1:n.-110-6933dup | |
| ENST00000557364.6:c.2240dup | ENSP00000451601.1:p.Tyr747Ter | |
| ENST00000643469.1:c.2240dup | ENSP00000495070.1:p.Tyr747Ter | |
| ENST00000645140.1:c.2152dup | ||
| ENST00000645206.1:n.754dup | ||
| ENST00000645929.1:c.1403dup | ENSP00000494402.1:p.Tyr468Ter | |
| ENST00000646340.1:c.2246dup | ENSP00000496730.1:p.Tyr749Ter | |
| ENST00000646647.2:c.2240dup MANE Select | ENSP00000495240.1:p.Tyr747Ter | |
| ENST00000399982.6:c.2240dup | ENSP00000382863.2:p.Tyr747Ter | |
| ENST00000430710.7:c.1403dup | ENSP00000406288.3:p.Tyr468Ter | |
| ENST00000554384.1:n.108dup | ||
| ENST00000555962.5:n.151-6933dup | ||
| ENST00000557364.5:c.2240dup | ENSP00000451601.1:p.Tyr747Ter | |
| NM_001170629.1:c.2240dup | NP_001164100.1:p.Tyr747Ter | |
| NM_020920.3:c.1403dup | NP_065971.2:p.Tyr468Ter | |
| NM_001170629.2:c.2240dup MANE Select | NP_001164100.1:p.Tyr747Ter | |
| NM_020920.4:c.1403dup | NP_065971.2:p.Tyr468Ter |