Linked Data
ClinVar Variation Id:
293462
dbSNP Id:
rs57039241
ExAC:
1:168262522 A / AGT
gnomAD v2:
1-168262522-A-AGT
gnomAD v3:
1-168293284-A-AGT
gnomAD v4:
1-168293284-A-AGT
MyVariant Identifiers:
chr1:g.168262563_168262564dupGT (hg19)
chr1:g.168262564_168262565insGT (hg19)
chr1:g.168262526_168262527insGT (hg19)
chr1:g.168262522_168262523insGT (hg19)
chr1:g.168293325_168293326dupGT (hg38)
chr1:g.168293326_168293327insGT (hg38)
chr1:g.168293288_168293289insGT (hg38)
chr1:g.168293284_168293285insGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293325_168293326dup , CM000663.2:g.168293325_168293326dup | GRCh38 |
| NC_000001.10:g.168262563_168262564dup , CM000663.1:g.168262563_168262564dup | GRCh37 |
| NC_000001.9:g.166529187_166529188dup | NCBI36 |
| NG_008244.1:g.17286_17287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.603+47_603+48dup MANE Select | ENSP00000356795.3:n.603+47_603+48dup | |
| ENST00000367821.7:c.603+47_603+48dup | ENSP00000356795.3:n.603+47_603+48dup | |
| ENST00000431969.5:c.400+47_400+48dup | ||
| NM_005149.2:c.603+47_603+48dup | NP_005140.1:n.603+47_603+48dup | |
| NM_005149.3:c.603+47_603+48dup MANE Select | NP_005140.1:n.603+47_603+48dup |