Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778295G= , CM000673.2:g.116778295G= | GRCh38 |
| NC_000011.9:g.116649011G= , CM000673.1:g.116649011G= | GRCh37 |
| NC_000011.8:g.116154221G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*630C= MANE Select | ENSP00000227322.3:n.*630C= | |
| ENST00000227322.7:c.*630C= | ENSP00000227322.3:n.*630C= | |
| ENST00000429220.5:c.1789C= | ||
| ENST00000444935.5:c.1922C= | ||
| NM_001317086.1:c.*630C= | NP_001304015.1:n.*630C= | |
| NM_003904.4:c.*630C= | NP_003895.1:n.*630C= | |
| NM_003904.5:c.*630C= MANE Select | NP_003895.1:n.*630C= | |
| NM_001317086.2:c.*630C= | NP_001304015.1:n.*630C= |