Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924775G= , CM000675.2:g.27924775G= | GRCh38 |
| NC_000013.10:g.28498912G= , CM000675.1:g.28498912G= | GRCh37 |
| NC_000013.9:g.27396912G= | NCBI36 |
| NG_008183.1:g.9745G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.*74G= MANE Select | ENSP00000370421.4:n.*74G= | |
| ENST00000381033.4:c.*74G= | ENSP00000370421.4:n.*74G= | |
| NM_000209.3:c.*74G= | NP_000200.1:n.*74G= | |
| NM_000209.4:c.*74G= MANE Select | NP_000200.1:n.*74G= |