Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173260G= , CM000678.2:g.173260G= | GRCh38 |
| NC_000016.9:g.223259G= , CM000678.1:g.223259G= | GRCh37 |
| NC_000016.8:g.163259G= | NCBI36 |
| NG_000006.1:g.34123G= | |
| NG_059186.1:g.1610G= | |
| NG_059271.1:g.5414G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.231G= MANE Select | ENSP00000251595.6:p.Met77= | |
| ENST00000251595.10:c.231G= | ENSP00000251595.6:p.Met77= | |
| ENST00000397806.1:c.135G= | ENSP00000380908.1:p.Met45= | |
| ENST00000482565.1:n.367G= | ||
| ENST00000484216.1:n.200G= | ||
| NM_000517.4:c.231G= | NP_000508.1:p.Met77= | |
| NM_000517.6:c.231G= MANE Select | NP_000508.1:p.Met77= |