Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.54154874T= , CM000680.2:g.54154874T= | GRCh38 |
| NC_000018.9:g.51681244T= , CM000680.1:g.51681244T= | GRCh37 |
| NC_000018.8:g.49935242T= | NCBI36 |
| NG_029550.1:g.74915A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003927.5:c.*450A= MANE Select | NP_003918.1:n.*450A= |
| ENST00000256429.8:c.*450A= MANE Select | ENSP00000256429.3:n.*450A= |
| NM_003927.4:c.*450A= | NP_003918.1:n.*450A= |
| ENST00000256429.7:c.*450A= | ENSP00000256429.3:n.*450A= |