Linked Data
dbSNP Id:
rs1601966568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289696_44289697insG , CM000683.2:g.44289696_44289697insG | GRCh38 |
| NC_000021.8:g.45709579_45709580insG , CM000683.1:g.45709579_45709580insG | GRCh37 |
| NC_000021.7:g.44534007_44534008insG | NCBI36 |
| NG_009556.1:g.8817_8818insG , LRG_18:g.8817_8818insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.692_693insG MANE Select | ENSP00000291582.5:p.Tyr231Ter | |
| ENST00000291582.5:c.692_693insG | ENSP00000291582.5:p.Tyr231Ter | |
| ENST00000527919.5:n.1425_1426insG | ||
| ENST00000530812.5:n.2442_2443insG | ||
| NM_000383.3:c.692_693insG | NP_000374.1:p.Tyr231Ter | |
| XM_011529551.1:c.692_693insG | XP_011527853.1:p.Tyr231Ter | |
| NM_000383.4:c.692_693insG MANE Select | NP_000374.1:p.Tyr231Ter |