Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92972141C= , CM000673.2:g.92972141C= | GRCh38 |
| NC_000011.9:g.92705307C= , CM000673.1:g.92705307C= | GRCh37 |
| NC_000011.8:g.92344955C= | NCBI36 |
| NG_028160.1:g.7519C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005959.5:c.223+2193C= MANE Select | NP_005950.1:n.223+2193C= |
| ENST00000257068.3:c.223+2193C= MANE Select | ENSP00000257068.2:n.223+2193C= |
| NM_005959.3:c.223+2193C= | NP_005950.1:n.223+2193C= |
| ENST00000257068.2:c.223+2193C= | ENSP00000257068.2:n.223+2193C= |
| ENST00000528076.1:c.165+2193C= | |
| ENST00000532482.1:c.224-320C= | ENSP00000436101.1:n.224-320C= |
| XM_011542839.1:c.223+2193C= | XP_011541141.1:n.223+2193C= |
| XM_011542839.2:c.223+2193C= | XP_011541141.1:n.223+2193C= |