Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635993C>A , CM000663.2:g.171635993C>A | GRCh38 |
| NC_000001.10:g.171605133C>A , CM000663.1:g.171605133C>A | GRCh37 |
| NC_000001.9:g.169871756C>A | NCBI36 |
| NG_008859.1:g.21641G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.1447G>T (MYOC) MANE Select | NP_000252.1:p.Glu483Ter |
| ENST00000037502.11:c.1447G>T (MYOC) MANE Select | ENSP00000037502.5:p.Glu483Ter |
| NM_000261.1:c.1447G>T (MYOC) | NP_000252.1:p.Glu483Ter |
| ENST00000037502.10:c.1447G>T (MYOC) | ENSP00000037502.5:p.Glu483Ter |
| ENST00000614688.1:c.*411G>T (MYOC) | ENSP00000478680.1:n.*411G>T |
| ENST00000637303.1:c.235-2637C>A (MYOCOS) | ENSP00000490048.1:n.235-2637C>A |
| ENST00000638471.1:c.*785G>T (MYOC) | ENSP00000491206.1:n.*785G>T |