Linked Data
dbSNP Id:
rs534408964
gnomAD v2:
15-78878506-G-GT
gnomAD v3:
15-78586164-G-GT
gnomAD v4:
15-78586164-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78586165dup , CM000677.2:g.78586165dup | GRCh38 |
| NC_000015.9:g.78878507dup , CM000677.1:g.78878507dup | GRCh37 |
| NC_000015.8:g.76665562dup | NCBI36 |
| NG_023328.1:g.25646dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.259-480dup MANE Select | ENSP00000299565.5:n.259-480dup | |
| ENST00000394802.4:c.74-480dup | ||
| ENST00000559554.5:c.259-480dup | ENSP00000453519.1:n.259-480dup | |
| NM_000745.3:c.259-480dup | NP_000736.2:n.259-480dup | |
| NM_001307945.1:c.259-480dup | NP_001294874.1:n.259-480dup | |
| XM_005254142.2:c.259-480dup | XP_005254199.1:n.259-480dup | |
| NM_001307945.2:c.259-480dup | NP_001294874.1:n.259-480dup | |
| NM_000745.4:c.259-480dup MANE Select | NP_000736.2:n.259-480dup | |
| NM_001395171.1:c.259-480dup | NP_001382100.1:n.259-480dup | |
| NM_001395172.1:c.259-480dup | NP_001382101.1:n.259-480dup | |
| NM_001395173.1:c.259-480dup | NP_001382102.1:n.259-480dup | |
| NM_001395174.1:c.259-480dup | NP_001382103.1:n.259-480dup | |
| NM_001395175.1:c.256-480dup | NP_001382104.1:n.256-480dup |