Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178902845T= , CM000667.2:g.178902845T= | GRCh38 |
| NC_000005.9:g.178329846T= , CM000667.1:g.178329846T= | GRCh37 |
| NC_000005.8:g.178262452T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030613.4:c.-450+6871T= MANE Select | NP_085116.2:n.-450+6871T= |
| ENST00000361362.7:c.-450+6871T= MANE Select | ENSP00000354453.2:n.-450+6871T= |
| NM_030613.2:c.-450+6871T= | NP_085116.2:n.-450+6871T= |
| NM_030613.3:c.-450+6871T= | NP_085116.2:n.-450+6871T= |
| ENST00000361362.6:c.-450+6871T= | ENSP00000354453.2:n.-450+6871T= |
| ENST00000520660.5:c.-453+6871T= | ENSP00000429095.1:n.-453+6871T= |
| ENST00000520805.5:c.-447+6871T= | ENSP00000431074.1:n.-447+6871T= |