Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960282T= , CM000667.2:g.63960282T= | GRCh38 |
| NC_000005.9:g.63256109T= , CM000667.1:g.63256109T= | GRCh37 |
| NC_000005.8:g.63291865T= | NCBI36 |
| NG_032816.1:g.7011A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*169A= MANE Select | ENSP00000316244.4:n.*169A= | |
| NM_000524.3:c.*169A= | NP_000515.2:n.*169A= | |
| NM_000524.4:c.*169A= MANE Select | NP_000515.2:n.*169A= |