Linked Data
dbSNP Id:
rs1467557954
gnomAD v2:
1-115226997-A-AC
gnomAD v3:
1-114684376-A-AC
gnomAD v4:
1-114684376-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684376_114684377insC , CM000663.2:g.114684376_114684377insC | GRCh38 |
| NC_000001.10:g.115226997_115226998insC , CM000663.1:g.115226997_115226998insC | GRCh37 |
| NC_000001.9:g.115028520_115028521insC | NCBI36 |
| NG_008012.1:g.16179_16180insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.370-13_370-12insG | ENSP00000358551.4:n.370-13_370-12insG | |
| ENST00000520113.7:c.382-13_382-12insG MANE Select | ENSP00000430075.3:n.382-13_382-12insG | |
| ENST00000637080.1:c.385-13_385-12insG | ENSP00000489753.1:n.385-13_385-12insG | |
| ENST00000639077.1:n.47-13_47-12insG | ||
| ENST00000369538.3:c.469-13_469-12insG | ENSP00000358551.3:n.469-13_469-12insG | |
| ENST00000485564.3:n.256-13_256-12insG | ||
| ENST00000520113.6:c.481-13_481-12insG | ENSP00000430075.2:n.481-13_481-12insG | |
| NM_000036.2:c.481-13_481-12insG | NP_000027.2:n.481-13_481-12insG | |
| NM_001172626.1:c.469-13_469-12insG | NP_001166097.1:n.469-13_469-12insG | |
| NM_000036.3:c.382-13_382-12insG MANE Select | NP_000027.3:n.382-13_382-12insG | |
| NM_001172626.2:c.370-13_370-12insG | NP_001166097.2:n.370-13_370-12insG |