Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69858285C= , CM000666.2:g.69858285C= | GRCh38 |
| NC_000004.11:g.70724003C= , CM000666.1:g.70724003C= | GRCh37 |
| NC_000004.10:g.70758592C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226444.4:c.-9-632G= MANE Select | ENSP00000226444.3:n.-9-632G= | |
| ENST00000226444.3:c.-9-632G= | ENSP00000226444.3:n.-9-632G= | |
| ENST00000504002.1:n.98-632G= | ||
| NM_005420.2:c.-9-632G= | NP_005411.1:n.-9-632G= | |
| XM_011532209.1:c.-9-632G= | XP_011530511.1:n.-9-632G= | |
| XM_011532210.1:c.-9-632G= | XP_011530512.1:n.-9-632G= | |
| XM_011532210.2:c.-9-632G= | XP_011530512.1:n.-9-632G= | |
| NM_005420.3:c.-9-632G= MANE Select | NP_005411.1:n.-9-632G= |