Linked Data
ClinVar Variation Id:
1600671
ClinVar RCV Id:
RCV002124612
dbSNP Id:
rs768896122
ExAC:
11:61205337 C / CT
gnomAD v2:
11-61205337-C-CT
gnomAD v3:
11-61437865-C-CT
gnomAD v4:
11-61437865-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61437874dup , CM000673.2:g.61437874dup | GRCh38 |
| NC_000011.9:g.61205346dup , CM000673.1:g.61205346dup | GRCh37 |
| NC_000011.8:g.60961922dup | NCBI36 |
| NG_023393.1:g.12750dup , LRG_519:g.12750dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.260+26dup MANE Select | ENSP00000301761.3:n.260+26dup | |
| ENST00000301761.6:c.260+26dup | ENSP00000301761.2:n.260+26dup | |
| ENST00000359614.9:c.260+26dup | ENSP00000352630.5:n.260+26dup | |
| ENST00000534878.5:c.260+26dup | ENSP00000471030.1:n.260+26dup | |
| ENST00000536250.1:c.*262+26dup | ENSP00000471120.1:n.*262+26dup | |
| ENST00000536670.5:n.286+26dup | ||
| ENST00000537782.5:c.260+26dup | ENSP00000469951.1:n.260+26dup | |
| ENST00000538594.5:c.260+26dup | ENSP00000440939.1:n.260+26dup | |
| ENST00000541135.5:c.260+26dup | ENSP00000443130.1:n.260+26dup | |
| ENST00000542074.1:c.36+7692dup | ENSP00000469670.1:n.36+7692dup | |
| ENST00000542794.5:c.*262+26dup | ENSP00000439983.1:n.*262+26dup | |
| ENST00000543044.2:c.224+26dup | ENSP00000440219.1:n.224+26dup | |
| ENST00000543265.1:c.260+26dup | ENSP00000443660.1:n.260+26dup | |
| ENST00000544025.5:n.355+26dup | ||
| ENST00000544801.5:c.260+26dup | ENSP00000442581.1:n.260+26dup | |
| ENST00000544880.1:n.264+26dup | ||
| NM_017841.2:c.260+26dup , LRG_519t1:c.260+26dup | NP_060311.1:n.260+26dup | |
| NM_017841.4:c.260+26dup MANE Select | NP_060311.1:n.260+26dup |