Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21143872C= , CM000674.2:g.21143872C= | GRCh38 |
| NC_000012.11:g.21296806C= , CM000674.1:g.21296806C= | GRCh37 |
| NC_000012.10:g.21188073C= | NCBI36 |
| NG_011745.1:g.17679C= , LRG_1022:g.17679C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.84+2214C= MANE Select | NP_006437.3:n.84+2214C= |
| ENST00000256958.3:c.84+2214C= MANE Select | ENSP00000256958.2:n.84+2214C= |
| NM_006446.4:c.84+2214C= , LRG_1022t1:c.84+2214C= | NP_006437.3:n.84+2214C= |
| ENST00000256958.2:c.84+2214C= | ENSP00000256958.2:n.84+2214C= |
| ENST00000543498.5:c.425+2214C= |