Linked Data
dbSNP Id:
rs770224350
ExAC:
19:50364682 G / GC
gnomAD v2:
19-50364682-G-GC
gnomAD v4:
19-49861425-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861430dup , CM000681.2:g.49861430dup | GRCh38 |
| NC_000019.9:g.50364687dup , CM000681.1:g.50364687dup | GRCh37 |
| NC_000019.8:g.55056499dup | NCBI36 |
| NG_027717.1:g.11140dup | |
| NG_050666.1:g.17587dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1448+23dup MANE Select | ENSP00000323511.2:n.1448+23dup | |
| ENST00000636840.1:c.59+182dup | ||
| ENST00000640501.1:c.54+23dup | ||
| ENST00000322344.7:c.1448+23dup | ENSP00000323511.2:n.1448+23dup | |
| ENST00000593946.5:c.*1375+23dup | ENSP00000468896.1:n.*1375+23dup | |
| ENST00000594661.5:n.1949+23dup | ||
| ENST00000595081.5:n.351+23dup | ||
| ENST00000596014.5:c.1448+23dup | ENSP00000472300.1:n.1448+23dup | |
| ENST00000597965.2:c.178dup | ENSP00000471097.2:n.178dup | |
| ENST00000599454.5:n.368+23dup | ||
| ENST00000600573.5:c.1355+23dup | ENSP00000469826.1:n.1355+23dup | |
| ENST00000600910.5:c.1338+23dup | ENSP00000473137.1:n.1338+23dup | |
| ENST00000601816.3:n.520+23dup | ||
| ENST00000625216.2:c.529+23dup | ENSP00000486898.1:n.529+23dup | |
| ENST00000627232.2:c.1368+23dup | ENSP00000486037.1:n.1368+23dup | |
| ENST00000631020.2:c.1340+23dup | ENSP00000486707.1:n.1340+23dup | |
| NM_007254.3:c.1448+23dup | NP_009185.2:n.1448+23dup | |
| NM_007254.4:c.1448+23dup MANE Select | NP_009185.2:n.1448+23dup |