Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656421A= , CM000682.2:g.10656421A= | GRCh38 |
| NC_000020.10:g.10637069A= , CM000682.1:g.10637069A= | GRCh37 |
| NC_000020.9:g.10585069A= | NCBI36 |
| NG_007496.1:g.22626T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.732T= MANE Select | ENSP00000254958.4:p.Ser244= | |
| ENST00000254958.9:c.732T= | ENSP00000254958.4:p.Ser244= | |
| ENST00000423891.6:n.598T= | ||
| NM_000214.2:c.732T= | NP_000205.1:p.Ser244= | |
| NM_000214.3:c.732T= MANE Select | NP_000205.1:p.Ser244= |