Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673756G= , CM000682.2:g.10673756G= | GRCh38 |
| NC_000020.10:g.10654404G= , CM000682.1:g.10654404G= | GRCh37 |
| NC_000020.9:g.10602404G= | NCBI36 |
| NG_007496.1:g.5291C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-226C= MANE Select | ENSP00000254958.4:n.-226C= | |
| ENST00000254958.9:c.-226C= | ENSP00000254958.4:n.-226C= | |
| NM_000214.2:c.-226C= | NP_000205.1:n.-226C= | |
| NM_000214.3:c.-226C= MANE Select | NP_000205.1:n.-226C= |