Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989040T= , CM000672.2:g.94989040T= | GRCh38 |
| NC_000010.10:g.96748797T= , CM000672.1:g.96748797T= | GRCh37 |
| NC_000010.9:g.96738787T= | NCBI36 |
| NG_008385.1:g.55383T= | |
| NG_008385.2:g.55883T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*12T= MANE Select | ENSP00000260682.6:n.*12T= | |
| ENST00000643112.1:c.*494T= | ENSP00000496202.1:n.*494T= | |
| ENST00000260682.6:c.*12T= | ENSP00000260682.6:n.*12T= | |
| NM_000771.3:c.*12T= | NP_000762.2:n.*12T= | |
| NM_000771.4:c.*12T= MANE Select | NP_000762.2:n.*12T= |