Linked Data
dbSNP Id:
rs1732062047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139873977_139873979dup , CM000666.2:g.139873977_139873979dup | GRCh38 |
| NC_000004.11:g.140795131_140795133dup , CM000666.1:g.140795131_140795133dup | GRCh37 |
| NC_000004.10:g.141014581_141014583dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502696.1:c.111-143312_111-143310dup | ||
| ENST00000509479.6:c.2079+15378_2079+15380dup MANE Select | ENSP00000421180.1:n.2079+15378_2079+15380dup | |
| NM_018717.4:c.2067+15378_2067+15380dup | NP_061187.2:n.2067+15378_2067+15380dup | |
| NM_018717.5:c.2079+15378_2079+15380dup MANE Select | NP_061187.3:n.2079+15378_2079+15380dup |