Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919506C= , CM000678.2:g.89919506C= | GRCh38 |
| NC_000016.9:g.89985914C= , CM000678.1:g.89985914C= | GRCh37 |
| NC_000016.8:g.88513415C= | NCBI36 |
| NG_012026.1:g.6628C= | |
| NG_027810.1:g.2498C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.248C= MANE Select | ENSP00000451605.1:p.Ser83= | |
| ENST00000639847.1:c.248C= | ENSP00000492011.1:p.Ser83= | |
| ENST00000555147.1:c.248C= | ENSP00000451605.1:p.Ser83= | |
| ENST00000555427.1:c.248C= | ENSP00000451760.1:p.Ser83= | |
| ENST00000556922.1:c.248C= | ENSP00000451560.1:p.Ser83= | |
| NM_002386.3:c.248C= | NP_002377.4:p.Ser83= | |
| NM_002386.4:c.248C= MANE Select | NP_002377.4:p.Ser83= |