Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67737817C= , CM000666.2:g.67737817C= | GRCh38 |
| NC_000004.11:g.68603535C= , CM000666.1:g.68603535C= | GRCh37 |
| NC_000004.10:g.68286130C= | NCBI36 |
| NG_009293.1:g.23270G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000406.3:c.*2663G= MANE Select | NP_000397.1:n.*2663G= |
| ENST00000226413.5:c.*2663G= MANE Select | ENSP00000226413.5:n.*2663G= |
| NM_000406.2:c.*2663G= | NP_000397.1:n.*2663G= |
| NM_001012763.1:c.*2772G= | NP_001012781.1:n.*2772G= |
| NM_001012763.2:c.*2772G= | NP_001012781.1:n.*2772G= |