Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989113A= , CM000672.2:g.94989113A= | GRCh38 |
| NC_000010.10:g.96748870A= , CM000672.1:g.96748870A= | GRCh37 |
| NC_000010.9:g.96738860A= | NCBI36 |
| NG_008385.1:g.55456A= | |
| NG_008385.2:g.55956A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*85A= MANE Select | ENSP00000260682.6:n.*85A= | |
| ENST00000643112.1:c.*567A= | ENSP00000496202.1:n.*567A= | |
| ENST00000260682.6:c.*85A= | ENSP00000260682.6:n.*85A= | |
| NM_000771.3:c.*85A= | NP_000762.2:n.*85A= | |
| NM_000771.4:c.*85A= MANE Select | NP_000762.2:n.*85A= |