Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168083405A= , CM000668.2:g.168083405A= | GRCh38 |
| NC_000006.11:g.168484085A= , CM000668.1:g.168484085A= | GRCh37 |
| NC_000006.10:g.168226934A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644440.1:c.-11-4381T= | ENSP00000496464.1:n.-11-4381T= | |
| ENST00000646385.1:c.-324-1543T= | ENSP00000494166.1:n.-324-1543T= | |
| XM_011536136.1:c.-324-1543T= | XP_011534438.1:n.-324-1543T= | |
| XM_011536138.1:c.11-4381T= | XP_011534440.1:n.11-4381T= | |
| XM_011536139.1:c.-11-4381T= | XP_011534441.1:n.-11-4381T= | |
| XM_011536143.1:c.-37-4381T= | XP_011534445.1:n.-37-4381T= | |
| XM_011536144.1:c.-37-4381T= | XP_011534446.1:n.-37-4381T= |