Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131891554A= , CM000668.2:g.131891554A= | GRCh38 |
| NC_000006.11:g.132212694A= , CM000668.1:g.132212694A= | GRCh37 |
| NC_000006.10:g.132254387A= | NCBI36 |
| NG_008206.1:g.88539A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.*1043A= MANE Select | ENSP00000498074.1:n.*1043A= | |
| ENST00000360971.6:c.*1043A= | ENSP00000354238.2:n.*1043A= | |
| NM_006208.2:c.*1043A= | NP_006199.2:n.*1043A= | |
| XM_011535896.1:c.*1043A= | XP_011534198.1:n.*1043A= | |
| NM_006208.3:c.*1043A= MANE Select | NP_006199.2:n.*1043A= |