Linked Data
dbSNP Id:
rs773463564
ExAC:
5:45462146 A / AT
gnomAD v2:
5-45462146-A-AT
gnomAD v3:
5-45462044-A-AT
gnomAD v4:
5-45462044-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45462050dup , CM000667.2:g.45462050dup | GRCh38 |
| NC_000005.9:g.45462152dup , CM000667.1:g.45462152dup | GRCh37 |
| NC_000005.8:g.45497909dup | NCBI36 |
| NG_042183.1:g.239074dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.850-38dup MANE Select | ENSP00000307342.4:n.850-38dup | |
| ENST00000637305.1:n.13-38dup | ||
| ENST00000673735.1:c.850-38dup | ENSP00000501107.1:n.850-38dup | |
| ENST00000303230.5:c.850-38dup | ENSP00000307342.4:n.850-38dup | |
| NM_021072.3:c.850-38dup | NP_066550.2:n.850-38dup | |
| NM_021072.4:c.850-38dup MANE Select | NP_066550.2:n.850-38dup |