Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171635925T>C , CM000663.2:g.171635925T>C | GRCh38 |
| NC_000001.10:g.171605065T>C , CM000663.1:g.171605065T>C | GRCh37 |
| NC_000001.9:g.169871688T>C | NCBI36 |
| NG_008859.1:g.21709A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.1515A>G (MYOC) MANE Select | ENSP00000037502.5:p.Ter505Trp | |
| ENST00000637303.1:c.235-2705T>C (MYOCOS) | ENSP00000490048.1:n.235-2705T>C | |
| ENST00000638471.1:c.*853A>G (MYOC) | ENSP00000491206.1:n.*853A>G | |
| ENST00000037502.10:c.1515A>G (MYOC) | ENSP00000037502.5:p.Ter505Trp | |
| ENST00000614688.1:c.*479A>G (MYOC) | ENSP00000478680.1:n.*479A>G | |
| NM_000261.1:c.1515A>G (MYOC) | NP_000252.1:p.Ter505Trp | |
| NM_000261.2:c.1515A>G (MYOC) MANE Select | NP_000252.1:p.Ter505Trp |