Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34855901T= , CM000677.2:g.34855901T= | GRCh38 |
| NC_000015.9:g.35148102T= , CM000677.1:g.35148102T= | GRCh37 |
| NC_000015.8:g.32935394T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014691.3:c.*891A= MANE Select | NP_055506.1:n.*891A= |
| ENST00000156471.10:c.*891A= MANE Select | ENSP00000156471.5:n.*891A= |
| ENST00000156471.9:c.*891A= | ENSP00000156471.5:n.*891A= |