Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389011A= , CM000681.2:g.18389011A= | GRCh38 |
| NC_000019.9:g.18499821A= , CM000681.1:g.18499821A= | GRCh37 |
| NC_000019.8:g.18360821A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*76A= MANE Select | ENSP00000252809.3:n.*76A= | |
| NM_004864.2:c.*76A= | NP_004855.2:n.*76A= | |
| NM_004864.3:c.*76A= | NP_004855.2:n.*76A= | |
| XM_024451789.1:c.*76A= | XP_024307557.1:n.*76A= | |
| NM_004864.4:c.*76A= MANE Select | NP_004855.2:n.*76A= |