Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960035G= , CM000667.2:g.63960035G= | GRCh38 |
| NC_000005.9:g.63255862G= , CM000667.1:g.63255862G= | GRCh37 |
| NC_000005.8:g.63291618G= | NCBI36 |
| NG_032816.1:g.7258C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*416C= MANE Select | ENSP00000316244.4:n.*416C= | |
| NM_000524.4:c.*416C= MANE Select | NP_000515.2:n.*416C= |