Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636292A= , CM000663.2:g.171636292A= | GRCh38 |
| NC_000001.10:g.171605432A= , CM000663.1:g.171605432A= | GRCh37 |
| NC_000001.9:g.169872055A= | NCBI36 |
| NG_008859.1:g.21342T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1148T= (MYOC) MANE Select | ENSP00000037502.5:p.Val383= | |
| ENST00000637303.1:c.235-2338A= (MYOCOS) | ENSP00000490048.1:n.235-2338A= | |
| ENST00000638471.1:c.*486T= (MYOC) | ENSP00000491206.1:n.*486T= | |
| ENST00000037502.10:c.1148T= (MYOC) | ENSP00000037502.5:p.Val383= | |
| ENST00000614688.1:c.*112T= (MYOC) | ENSP00000478680.1:n.*112T= | |
| NM_000261.1:c.1148T= (MYOC) | NP_000252.1:p.Val383= | |
| NM_000261.2:c.1148T= (MYOC) MANE Select | NP_000252.1:p.Val383= |