Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636683C>T , CM000663.2:g.171636683C>T | GRCh38 |
| NC_000001.10:g.171605823C>T , CM000663.1:g.171605823C>T | GRCh37 |
| NC_000001.9:g.169872446C>T | NCBI36 |
| NG_008859.1:g.20951G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.757G>A (MYOC) MANE Select | ENSP00000037502.5:p.Glu253Lys | |
| ENST00000637303.1:c.235-1947C>T (MYOCOS) | ENSP00000490048.1:n.235-1947C>T | |
| ENST00000638471.1:c.*95G>A (MYOC) | ENSP00000491206.1:n.*95G>A | |
| ENST00000037502.10:c.757G>A (MYOC) | ENSP00000037502.5:p.Glu253Lys | |
| ENST00000614688.1:c.757G>A (MYOC) | ENSP00000478680.1:p.Glu253Lys | |
| NM_000261.1:c.757G>A (MYOC) | NP_000252.1:p.Glu253Lys | |
| NM_000261.2:c.757G>A (MYOC) MANE Select | NP_000252.1:p.Glu253Lys |