Linked Data
dbSNP Id:
rs1358870645
gnomAD v2:
12-40692599-A-AT
gnomAD v3:
12-40298797-A-AT
gnomAD v4:
12-40298797-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40298798dup , CM000674.2:g.40298798dup | GRCh38 |
| NC_000012.11:g.40692600dup , CM000674.1:g.40692600dup | GRCh37 |
| NC_000012.10:g.38978867dup | NCBI36 |
| NG_011709.1:g.78788dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.3347+305dup MANE Select | ENSP00000298910.7:n.3347+305dup | |
| ENST00000679360.1:c.*2256+305dup | ENSP00000505368.1:n.*2256+305dup | |
| ENST00000680790.1:c.3092+305dup | ENSP00000505335.1:n.3092+305dup | |
| ENST00000298910.11:c.3347+305dup | ENSP00000298910.7:n.3347+305dup | |
| ENST00000343742.6:c.3347+305dup | ENSP00000341930.2:n.3347+305dup | |
| ENST00000430804.5:c.391+305dup | ||
| ENST00000479187.5:n.28+305dup | ||
| NM_198578.3:c.3347+305dup | NP_940980.3:n.3347+305dup | |
| XM_005268629.2:c.3347+305dup | XP_005268686.1:n.3347+305dup | |
| XM_011537877.1:c.3347+305dup | XP_011536179.1:n.3347+305dup | |
| XM_011537878.1:c.3347+305dup | XP_011536180.1:n.3347+305dup | |
| XM_011537879.1:c.2144+305dup | XP_011536181.1:n.2144+305dup | |
| XM_011537880.1:c.3347+305dup | XP_011536182.1:n.3347+305dup | |
| XM_011537881.1:c.3347+305dup | XP_011536183.1:n.3347+305dup | |
| XM_011537882.1:c.3347+305dup | XP_011536184.1:n.3347+305dup | |
| XM_005268629.4:c.3347+305dup | XP_005268686.1:n.3347+305dup | |
| XM_011537877.3:c.3347+305dup | XP_011536179.1:n.3347+305dup | |
| XM_011537881.3:c.3347+305dup | XP_011536183.1:n.3347+305dup | |
| XM_011537882.3:c.3347+305dup | XP_011536184.1:n.3347+305dup | |
| XM_017018786.2:c.3347+305dup | XP_016874275.1:n.3347+305dup | |
| XM_017018787.1:c.263+305dup | XP_016874276.1:n.263+305dup | |
| XM_017018789.2:c.3347+305dup | XP_016874278.1:n.3347+305dup | |
| XM_024448833.1:c.2144+305dup | XP_024304601.1:n.2144+305dup | |
| XR_001748574.2:n.3589+305dup | ||
| NM_198578.4:c.3347+305dup MANE Select | NP_940980.4:n.3347+305dup |