Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4221394T= , CM000682.2:g.4221394T= | GRCh38 |
| NC_000020.10:g.4202041T= , CM000682.1:g.4202041T= | GRCh37 |
| NC_000020.9:g.4150041T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000678.4:c.*129A= MANE Select | NP_000669.1:n.*129A= |
| ENST00000379453.6:c.*129A= MANE Select | ENSP00000368766.4:n.*129A= |
| NM_000678.3:c.*129A= | NP_000669.1:n.*129A= |
| ENST00000379453.5:c.*129A= | ENSP00000368766.4:n.*129A= |