Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173185C= , CM000678.2:g.173185C= | GRCh38 |
| NC_000016.9:g.223184C= , CM000678.1:g.223184C= | GRCh37 |
| NC_000016.8:g.163184C= | NCBI36 |
| NG_000006.1:g.34048C= | |
| NG_059186.1:g.1535C= | |
| NG_059271.1:g.5339C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.156C= MANE Select | ENSP00000251595.6:p.Gly52= | |
| ENST00000251595.10:c.156C= | ENSP00000251595.6:p.Gly52= | |
| ENST00000397806.1:c.60C= | ENSP00000380908.1:p.Gly20= | |
| ENST00000482565.1:n.292C= | ||
| ENST00000484216.1:n.125C= | ||
| NM_000517.4:c.156C= | NP_000508.1:p.Gly52= | |
| NM_000517.6:c.156C= MANE Select | NP_000508.1:p.Gly52= |