Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69858122C= , CM000666.2:g.69858122C= | GRCh38 |
| NC_000004.11:g.70723840C= , CM000666.1:g.70723840C= | GRCh37 |
| NC_000004.10:g.70758429C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005420.3:c.-9-469G= MANE Select | NP_005411.1:n.-9-469G= |
| ENST00000226444.4:c.-9-469G= MANE Select | ENSP00000226444.3:n.-9-469G= |
| NM_005420.2:c.-9-469G= | NP_005411.1:n.-9-469G= |
| ENST00000226444.3:c.-9-469G= | ENSP00000226444.3:n.-9-469G= |
| ENST00000504002.1:n.98-469G= | |
| XM_011532209.1:c.-9-469G= | XP_011530511.1:n.-9-469G= |
| XM_011532210.1:c.-9-469G= | XP_011530512.1:n.-9-469G= |
| XM_011532210.2:c.-9-469G= | XP_011530512.1:n.-9-469G= |