Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26216567A= , CM000672.2:g.26216567A= | GRCh38 |
| NC_000010.10:g.26505496A= , CM000672.1:g.26505496A= | GRCh37 |
| NC_000010.9:g.26545502A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000818.2:c.-243A= | NP_000809.1:n.-243A= |
| NM_000818.3:c.-243A= | NP_000809.1:n.-243A= |
| NM_001134366.1:c.-243A= | NP_001127838.1:n.-243A= |
| ENST00000376261.7:c.-243A= | ENSP00000365437.3:n.-243A= |