Linked Data
dbSNP Id:
rs1185903247
gnomAD v2:
11-616774-G-GC
gnomAD v3:
11-616774-G-GC
gnomAD v4:
11-616774-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.616775dup , CM000673.2:g.616775dup | GRCh38 |
| NC_000011.9:g.616775dup , CM000673.1:g.616775dup | GRCh37 |
| NC_000011.8:g.606775dup | NCBI36 |
| NG_029106.1:g.4225dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358353.8:c.*576dup | ENSP00000351118.4:n.*576dup | |
| ENST00000397542.7:c.*576dup MANE Select | ENSP00000380676.2:n.*576dup | |
| ENST00000358353.7:c.*576dup | ENSP00000351118.3:n.*576dup | |
| ENST00000397542.6:c.*576dup | ENSP00000380676.2:n.*576dup | |
| NM_001171968.1:c.*576dup | NP_001165439.1:n.*576dup | |
| NM_021924.4:c.*576dup | NP_068743.2:n.*576dup | |
| NM_031264.3:c.*576dup | NP_112554.2:n.*576dup | |
| XM_006718253.2:c.*576dup | XP_006718316.1:n.*576dup | |
| XM_011520188.1:c.*576dup | XP_011518490.1:n.*576dup | |
| XM_011520189.1:c.*576dup | XP_011518491.1:n.*576dup | |
| XM_011520190.1:c.*791dup | XP_011518492.1:n.*791dup | |
| XM_006718253.3:c.*576dup | XP_006718316.1:n.*576dup | |
| XM_011520188.2:c.*576dup | XP_011518490.1:n.*576dup | |
| XM_011520189.2:c.*576dup | XP_011518491.1:n.*576dup | |
| XM_011520190.2:c.*791dup | XP_011518492.1:n.*791dup | |
| NM_001171968.2:c.*576dup | NP_001165439.2:n.*576dup | |
| NM_021924.5:c.*576dup MANE Select | NP_068743.3:n.*576dup | |
| NM_031264.4:c.*576dup | NP_112554.3:n.*576dup | |
| NM_001171968.3:c.*576dup | NP_001165439.2:n.*576dup | |
| NM_031264.5:c.*576dup | NP_112554.3:n.*576dup |