Linked Data
ClinVar Variation Id:
1328402
ClinVar RCV Id:
RCV001807656
dbSNP Id:
rs387906578
ExAC:
1:230839054 C / CA
gnomAD v2:
1-230839054-C-CA
gnomAD v3:
1-230703308-C-CA
gnomAD v4:
1-230703308-C-CA
COSMIC:
COSM4611891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230703316dup , CM000663.2:g.230703316dup | GRCh38 |
| NC_000001.10:g.230839062dup , CM000663.1:g.230839062dup | GRCh37 |
| NC_000001.9:g.228905685dup | NCBI36 |
| NG_008836.1:g.16282dup | |
| NG_008836.2:g.16282dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.1263dup MANE Select | ENSP00000355627.5:p.Glu422Ter | |
| ENST00000679738.1:c.1263dup | ENSP00000505063.1:p.Glu422Ter | |
| ENST00000679802.1:c.*722dup | ENSP00000505184.1:n.*722dup | |
| ENST00000679854.1:n.5568dup | ||
| ENST00000679957.1:c.1254dup | ENSP00000506646.1:p.Glu419Ter | |
| ENST00000680041.1:c.1263dup | ENSP00000504866.1:p.Glu422Ter | |
| ENST00000680783.1:c.829+6686dup | ENSP00000506329.1:n.829+6686dup | |
| ENST00000681269.1:c.1263dup | ENSP00000505985.1:p.Glu422Ter | |
| ENST00000681347.1:n.3369dup | ||
| ENST00000681514.1:c.1263dup | ENSP00000505963.1:p.Glu422Ter | |
| ENST00000681772.1:c.*757dup | ENSP00000505829.1:n.*757dup | |
| ENST00000366667.4:c.1290dup | ENSP00000355627.4:p.Glu431Ter | |
| NM_000029.3:c.1290dup | NP_000020.1:p.Glu431Ter | |
| NM_000029.4:c.1290dup | NP_000020.1:p.Glu431Ter | |
| NM_001382817.3:c.1263dup | NP_001369746.2:p.Glu422Ter | |
| NM_001384479.1:c.1263dup MANE Select | NP_001371408.1:p.Glu422Ter |