Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960037G= , CM000667.2:g.63960037G= | GRCh38 |
| NC_000005.9:g.63255864G= , CM000667.1:g.63255864G= | GRCh37 |
| NC_000005.8:g.63291620G= | NCBI36 |
| NG_032816.1:g.7256C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*414C= MANE Select | ENSP00000316244.4:n.*414C= | |
| NM_000524.4:c.*414C= MANE Select | NP_000515.2:n.*414C= |