Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827551C= , CM000667.2:g.148827551C= | GRCh38 |
| NC_000005.9:g.148207114C= , CM000667.1:g.148207114C= | GRCh37 |
| NC_000005.8:g.148187307C= | NCBI36 |
| NG_016421.1:g.5959C= | |
| NG_016421.2:g.5959C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.720C= MANE Select | ENSP00000305372.4:p.Phe240= | |
| ENST00000305988.5:c.720C= | ENSP00000305372.4:p.Phe240= | |
| NM_000024.5:c.720C= | NP_000015.1:p.Phe240= | |
| NM_000024.6:c.720C= MANE Select | NP_000015.2:p.Phe240= |