Linked Data
dbSNP Id:
rs755803469
ExAC:
1:985570 G / GC
gnomAD v2:
1-985570-G-GC
gnomAD v4:
1-1050190-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1050194dup , CM000663.2:g.1050194dup | GRCh38 |
| NC_000001.10:g.985574dup , CM000663.1:g.985574dup | GRCh37 |
| NC_000001.9:g.975437dup | NCBI36 |
| NG_016346.1:g.35072dup , LRG_198:g.35072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.4880-39dup MANE Select | ENSP00000368678.2:n.4880-39dup | |
| ENST00000651234.1:c.4565-39dup | ENSP00000499046.1:n.4565-39dup | |
| ENST00000652369.1:c.4565-39dup | ENSP00000498543.1:n.4565-39dup | |
| ENST00000379370.6:c.4880-39dup | ENSP00000368678.2:n.4880-39dup | |
| ENST00000620552.4:c.4466-39dup | ENSP00000484607.1:n.4466-39dup | |
| NM_001305275.1:c.4880-39dup | NP_001292204.1:n.4880-39dup | |
| NM_198576.3:c.4880-39dup | NP_940978.2:n.4880-39dup | |
| XM_005244749.2:c.4880-39dup | XP_005244806.1:n.4880-39dup | |
| XM_006710635.2:c.4880-39dup | XP_006710698.1:n.4880-39dup | |
| XM_011541429.1:c.4880-39dup | XP_011539731.1:n.4880-39dup | |
| XM_011541430.1:c.4007-39dup | XP_011539732.1:n.4007-39dup | |
| XM_011541431.1:c.3146-39dup | XP_011539733.1:n.3146-39dup | |
| XR_946650.1:n.4947-39dup | ||
| NM_001364727.1:c.4565-39dup | NP_001351656.1:n.4565-39dup | |
| XM_005244749.3:c.4880-39dup | XP_005244806.1:n.4880-39dup | |
| XM_011541429.2:c.4880-39dup | XP_011539731.1:n.4880-39dup | |
| XR_946650.2:n.4951-39dup | ||
| NM_001305275.2:c.4880-39dup | NP_001292204.1:n.4880-39dup | |
| NM_198576.4:c.4880-39dup MANE Select | NP_940978.2:n.4880-39dup | |
| NM_001364727.2:c.4565-39dup | NP_001351656.1:n.4565-39dup |