Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106922935C= , CM000666.2:g.106922935C= | GRCh38 |
| NC_000004.11:g.107844092C= , CM000666.1:g.107844092C= | GRCh37 |
| NC_000004.10:g.108063541C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285311.8:c.*1019G= MANE Select | ENSP00000285311.3:n.*1019G= | |
| ENST00000285311.7:c.*1019G= | ENSP00000285311.3:n.*1019G= | |
| NM_014421.2:c.*1019G= | NP_055236.1:n.*1019G= | |
| NM_014421.3:c.*1019G= MANE Select | NP_055236.1:n.*1019G= |