Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101235379G>A , CM000677.2:g.101235379G>A | GRCh38 |
| NC_000015.9:g.101775584G>A , CM000677.1:g.101775584G>A | GRCh37 |
| NC_000015.8:g.99593107G>A | NCBI36 |
| NG_031908.1:g.21554C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.519C>T MANE Select | NP_055733.2:p.Asp173= |
| ENST00000254190.4:c.519C>T MANE Select | ENSP00000254190.3:p.Asp173= |
| NM_014918.4:c.519C>T | NP_055733.2:p.Asp173= |
| ENST00000254190.3:c.519C>T | ENSP00000254190.3:p.Asp173= |
| XM_011521364.1:c.519C>T | XP_011519666.1:p.Asp173= |
| XM_011521364.2:c.519C>T | XP_011519666.1:p.Asp173= |