Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23215237G= , CM000678.2:g.23215237G= | GRCh38 |
| NC_000016.9:g.23226558G= , CM000678.1:g.23226558G= | GRCh37 |
| NC_000016.8:g.23134059G= | NCBI36 |
| NG_011909.1:g.37519G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039.4:c.1718G= MANE Select | NP_001030.2:p.Trp573= |
| ENST00000300061.3:c.1718G= MANE Select | ENSP00000300061.2:p.Trp573= |
| NM_001039.3:c.1718G= | NP_001030.2:p.Trp573= |
| ENST00000300061.2:c.1718G= | ENSP00000300061.2:p.Trp573= |