Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173578T= , CM000678.2:g.173578T= | GRCh38 |
| NC_000016.9:g.223577T= , CM000678.1:g.223577T= | GRCh37 |
| NC_000016.8:g.163577T= | NCBI36 |
| NG_000006.1:g.34441T= | |
| NG_059186.1:g.1928T= | |
| NG_059271.1:g.5732T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.407T= MANE Select | ENSP00000251595.6:p.Val136= | |
| ENST00000251595.10:c.407T= | ENSP00000251595.6:p.Val136= | |
| ENST00000397806.1:c.311T= | ENSP00000380908.1:p.Val104= | |
| ENST00000482565.1:n.543T= | ||
| NM_000517.4:c.407T= | NP_000508.1:p.Val136= | |
| NM_000517.6:c.407T= MANE Select | NP_000508.1:p.Val136= |