Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52328382C= , CM000676.2:g.52328382C= | GRCh38 |
| NC_000014.8:g.52795100C= , CM000676.1:g.52795100C= | GRCh37 |
| NC_000014.7:g.51864850C= | NCBI36 |
| NG_013082.1:g.19085C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000956.4:c.*928C= MANE Select | NP_000947.2:n.*928C= |
| ENST00000245457.6:c.*928C= MANE Select | ENSP00000245457.5:n.*928C= |
| NM_000956.3:c.*928C= | NP_000947.2:n.*928C= |
| ENST00000245457.5:c.*928C= | ENSP00000245457.5:n.*928C= |