Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2277937A= , CM000678.2:g.2277937A= | GRCh38 |
| NC_000016.9:g.2327938A= , CM000678.1:g.2327938A= | GRCh37 |
| NC_000016.8:g.2267939A= | NCBI36 |
| NG_011790.1:g.67810T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4851T= MANE Select | ENSP00000301732.5:p.Ser1617= | |
| ENST00000301732.9:c.4851T= | ENSP00000301732.5:p.Ser1617= | |
| ENST00000382381.7:c.4677T= | ENSP00000371818.3:p.Ser1559= | |
| NM_001089.2:c.4851T= | NP_001080.2:p.Ser1617= | |
| NM_001089.3:c.4851T= MANE Select | NP_001080.2:p.Ser1617= |