Linked Data
dbSNP Id:
rs1572783997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011009_21011010insC , CM000664.2:g.21011009_21011010insC | GRCh38 |
| NC_000002.11:g.21233881_21233882insC , CM000664.1:g.21233881_21233882insC | GRCh37 |
| NC_000002.10:g.21087386_21087387insC | NCBI36 |
| NG_011793.1:g.38064_38065insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5858_5859insG MANE Select | ENSP00000233242.1:p.His1953GlnfsTer5 | |
| ENST00000616098.4:c.5858_5859insG | ENSP00000477990.1:p.His1953GlnfsTer5 | |
| NM_000384.2:c.5858_5859insG | NP_000375.2:p.His1953GlnfsTer5 | |
| XM_011532809.1:c.5858_5859insG | XP_011531111.1:p.His1953GlnfsTer? | |
| NM_000384.3:c.5858_5859insG MANE Select | NP_000375.3:p.His1953GlnfsTer5 |