Linked Data
ClinVar Variation Id:
1328
ClinVar RCV Id:
RCV000001391
RCV000144680
RCV000168127
RCV000487323
RCV000504690
RCV000623309
RCV000709625
RCV001074512
RCV003407252
dbSNP Id:
rs549625604
ExAC:
12:76741493 C / CA
gnomAD v2:
12-76741493-C-CA
gnomAD v3:
12-76347713-C-CA
gnomAD v4:
12-76347713-C-CA
COSMIC:
COSM1683468
MyVariant Identifiers:
chr12:g.76741494dupA (hg19)
chr12:g.76741493_76741494insA (hg19)
chr12:g.76347714dupA (hg38)
chr12:g.76347713_76347714insA (hg38)
PubMed:
PMID:10874630
PMID:11179009
PMID:11567139
PMID:16582908
PMID:16823392
PMID:17980398
PMID:20080638
PMID:20120035
PMID:20177705
PMID:20301537
PMID:20498079
PMID:20805367
PMID:20876674
PMID:21209035
PMID:21344540
PMID:21642631
PMID:22353939
PMID:22713813
PMID:24400638
PMID:24746959
PMID:27385962
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347716dup , CM000674.2:g.76347716dup | GRCh38 |
| NC_000012.11:g.76741496dup , CM000674.1:g.76741496dup | GRCh37 |
| NC_000012.10:g.75265627dup | NCBI36 |
| NG_016357.1:g.5729dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.271dup MANE Select | ENSP00000497413.1:p.Cys91LeufsTer5 | |
| ENST00000393262.3:c.271dup | ENSP00000376946.3:p.Cys91LeufsTer5 | |
| NM_024685.3:c.271dup | NP_078961.3:p.Cys91LeufsTer5 | |
| NM_024685.4:c.271dup MANE Select | NP_078961.3:p.Cys91LeufsTer5 |