Linked Data
dbSNP Id:
rs2112011905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332364_61332365insAGG , CM000667.2:g.61332364_61332365insAGG | GRCh38 |
| NC_000005.9:g.60628191_60628192insAGG , CM000667.1:g.60628191_60628192insAGG | GRCh37 |
| NC_000005.8:g.60663948_60663949insAGG | NCBI36 |
| NG_053150.1:g.5092_5093insAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.92_93insAGG MANE Select | ENSP00000252744.5:p.Gly31_Gly32insGly | |
| ENST00000252744.5:c.92_93insAGG | ENSP00000252744.5:p.Gly31_Gly32insGly | |
| NM_020928.1:c.92_93insAGG | NP_065979.1:p.Gly31_Gly32insGly | |
| NM_020928.2:c.92_93insAGG MANE Select | NP_065979.1:p.Gly31_Gly32insGly |