Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985975T= , CM000678.2:g.1985975T= | GRCh38 |
| NC_000016.9:g.2035976T= , CM000678.1:g.2035976T= | GRCh37 |
| NC_000016.8:g.1975977T= | NCBI36 |
| NG_016288.1:g.6827T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.340T= | ENSP00000455885.1:p.Ser114= | |
| ENST00000248114.7:c.565T= MANE Select | ENSP00000248114.6:p.Ser189= | |
| ENST00000248114.6:c.565T= | ENSP00000248114.6:p.Ser189= | |
| ENST00000565658.1:n.722T= | ||
| ENST00000567719.1:c.340T= | ENSP00000455885.1:p.Ser114= | |
| ENST00000569451.1:c.*38T= | ENSP00000456432.1:n.*38T= | |
| NM_005262.2:c.565T= | NP_005253.3:p.Ser189= | |
| NM_005262.3:c.565T= MANE Select | NP_005253.3:p.Ser189= |