Linked Data
dbSNP Id:
rs1049264035
gnomAD v2:
12-4405316-C-CT
gnomAD v3:
12-4296150-C-CT
gnomAD v4:
12-4296150-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4296153dup , CM000674.2:g.4296153dup | GRCh38 |
| NC_000012.11:g.4405319dup , CM000674.1:g.4405319dup | GRCh37 |
| NC_000012.10:g.4275580dup | NCBI36 |
| NG_034254.1:g.27418dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261254.8:c.721-3707dup MANE Select | ENSP00000261254.3:n.721-3707dup | |
| ENST00000536537.2:n.851-1604dup | ||
| ENST00000648100.1:c.720+7163dup | ENSP00000497536.1:n.720+7163dup | |
| ENST00000674624.1:c.720+7163dup | ENSP00000501898.1:n.720+7163dup | |
| ENST00000675468.1:n.645-3707dup | ||
| ENST00000675880.1:c.763-3707dup | ENSP00000502508.1:n.763-3707dup | |
| ENST00000676279.1:c.721-3707dup | ENSP00000502597.1:n.721-3707dup | |
| ENST00000676411.1:c.721-3707dup | ENSP00000502654.1:n.721-3707dup | |
| ENST00000261254.7:c.721-3707dup | ENSP00000261254.3:n.721-3707dup | |
| ENST00000536537.1:c.318-1604dup | ||
| NM_001759.3:c.721-3707dup | NP_001750.1:n.721-3707dup | |
| NM_001759.4:c.721-3707dup MANE Select | NP_001750.1:n.721-3707dup |