Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232652C= , CM000667.2:g.173232652C= | GRCh38 |
| NC_000005.9:g.172659655C= , CM000667.1:g.172659655C= | GRCh37 |
| NC_000005.8:g.172592261C= | NCBI36 |
| NG_013340.1:g.7661G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.892G= MANE Select | ENSP00000327758.4:p.Gly298= | |
| ENST00000329198.4:c.892G= | ENSP00000327758.4:p.Gly298= | |
| NM_001166175.1:c.*845G= | NP_001159647.1:n.*845G= | |
| NM_001166176.1:c.*691G= | NP_001159648.1:n.*691G= | |
| NM_004387.3:c.892G= | NP_004378.1:p.Gly298= | |
| NM_004387.4:c.892G= MANE Select | NP_004378.1:p.Gly298= | |
| NM_001166175.2:c.*845G= | NP_001159647.1:n.*845G= | |
| NM_001166176.2:c.*691G= | NP_001159648.1:n.*691G= |