Linked Data
dbSNP Id:
rs2123472482
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990476_45990477insGG , CM000683.2:g.45990476_45990477insGG | GRCh38 |
| NC_000021.8:g.47410390_47410391insGG , CM000683.1:g.47410390_47410391insGG | GRCh37 |
| NC_000021.7:g.46234818_46234819insGG | NCBI36 |
| NG_008674.1:g.13728_13729insGG , LRG_475:g.13728_13729insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+54_1002+55insGG MANE Select | ENSP00000355180.3:n.1002+54_1002+55insGG | |
| ENST00000361866.7:c.1002+54_1002+55insGG | ENSP00000355180.3:n.1002+54_1002+55insGG | |
| ENST00000612273.1:c.1002+54_1002+55insGG | ENSP00000483630.1:n.1002+54_1002+55insGG | |
| NM_001848.2:c.1002+54_1002+55insGG , LRG_475t1:c.1002+54_1002+55insGG | NP_001839.2:n.1002+54_1002+55insGG | |
| NM_001848.3:c.1002+54_1002+55insGG MANE Select | NP_001839.2:n.1002+54_1002+55insGG |