Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863419A= , CM000666.2:g.4863419A= | GRCh38 |
| NC_000004.11:g.4865146A= , CM000666.1:g.4865146A= | GRCh37 |
| NC_000004.10:g.4916047A= | NCBI36 |
| NG_008121.1:g.8755A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.*276A= MANE Select | NP_002439.2:n.*276A= |
| ENST00000382723.5:c.*276A= MANE Select | ENSP00000372170.4:n.*276A= |
| ENST00000382723.4:c.*276A= | ENSP00000372170.4:n.*276A= |