Linked Data
ClinVar Variation Id:
4002
dbSNP Id:
rs779536510
ExAC:
1:19200975 C / CA
gnomAD v2:
1-19200975-C-CA
gnomAD v3:
1-18874481-C-CA
gnomAD v4:
1-18874481-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18874484dup , CM000663.2:g.18874484dup | GRCh38 |
| NC_000001.10:g.19200978dup , CM000663.1:g.19200978dup | GRCh37 |
| NC_000001.9:g.19073565dup | NCBI36 |
| NG_012283.1:g.33318dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375341.8:c.1560dup MANE Select | ENSP00000364490.3:p.Gly521TrpfsTer10 | |
| ENST00000290597.9:c.1560dup | ENSP00000290597.5:p.Gly521TrpfsTer10 | |
| ENST00000375341.7:c.1560dup | ENSP00000364490.3:p.Gly521TrpfsTer10 | |
| ENST00000494072.3:c.2612dup | ||
| ENST00000538309.5:c.1380dup | ENSP00000442988.1:p.Gly461TrpfsTer10 | |
| ENST00000538839.5:c.1407dup | ENSP00000446071.1:p.Gly470TrpfsTer10 | |
| NM_001161504.1:c.1380dup | NP_001154976.1:p.Gly461TrpfsTer10 | |
| NM_003748.3:c.1560dup | NP_003739.2:p.Gly521TrpfsTer10 | |
| NM_170726.2:c.1560dup | NP_733844.1:p.Gly521TrpfsTer10 | |
| XM_011542352.1:c.1407dup | XP_011540654.1:p.Gly470TrpfsTer10 | |
| XR_946786.1:n.1429dup | ||
| NM_001319218.1:c.1407dup | NP_001306147.1:p.Gly470TrpfsTer10 | |
| XR_001737510.1:n.1276dup | ||
| NM_003748.4:c.1560dup MANE Select | NP_003739.2:p.Gly521TrpfsTer10 | |
| NM_170726.3:c.1560dup | NP_733844.1:p.Gly521TrpfsTer10 | |
| NM_001161504.2:c.1380dup | NP_001154976.1:p.Gly461TrpfsTer10 | |
| NM_001319218.2:c.1407dup | NP_001306147.1:p.Gly470TrpfsTer10 |