Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134606945T= , CM000667.2:g.134606945T= | GRCh38 |
| NC_000005.9:g.133942635T= , CM000667.1:g.133942635T= | GRCh37 |
| NC_000005.8:g.133970534T= | NCBI36 |
| NG_017002.1:g.30899A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402673.7:c.*5A= MANE Select | ENSP00000385432.2:n.*5A= | |
| ENST00000402673.6:c.*5A= | ENSP00000385432.2:n.*5A= | |
| ENST00000439578.5:c.*5A= | ENSP00000404997.1:n.*5A= | |
| ENST00000502539.5:c.*5A= | ENSP00000426335.1:n.*5A= | |
| ENST00000507419.5:c.*5A= | ENSP00000425339.1:n.*5A= | |
| ENST00000508363.5:n.2571A= | ||
| NM_001033503.2:c.*5A= | NP_001028675.1:n.*5A= | |
| NM_016103.3:c.*5A= | NP_057187.1:n.*5A= | |
| NM_016103.4:c.*5A= MANE Select | NP_057187.1:n.*5A= | |
| NM_001033503.3:c.*5A= | NP_001028675.1:n.*5A= |