Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46213300T= , CM000665.2:g.46213300T= | GRCh38 |
| NC_000003.11:g.46254791T= , CM000665.1:g.46254791T= | GRCh37 |
| NC_000003.10:g.46229795T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357422.2:c.-68+2393T= | ENSP00000350003.2:n.-68+2393T= | |
| XM_006712960.2:c.-68+2393T= | XP_006713023.1:n.-68+2393T= | |
| XM_011533334.1:c.-155+2393T= | XP_011531636.1:n.-155+2393T= | |
| XM_011533335.1:c.-149+2393T= | XP_011531637.1:n.-149+2393T= | |
| XM_006712960.3:c.-68+2393T= | XP_006713023.1:n.-68+2393T= | |
| XM_011533335.2:c.-149+2393T= | XP_011531637.1:n.-149+2393T= | |
| XM_017005686.1:c.-966+2393T= | XP_016861175.1:n.-966+2393T= |