Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171638701G>T , CM000663.2:g.171638701G>T | GRCh38 |
| NC_000001.10:g.171607841G>T , CM000663.1:g.171607841G>T | GRCh37 |
| NC_000001.9:g.169874464G>T | NCBI36 |
| NG_008859.1:g.18933C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.626C>A (MYOC) MANE Select | NP_000252.1:p.Thr209Asn |
| ENST00000037502.11:c.626C>A (MYOC) MANE Select | ENSP00000037502.5:p.Thr209Asn |
| NM_000261.1:c.626C>A (MYOC) | NP_000252.1:p.Thr209Asn |
| ENST00000037502.10:c.626C>A (MYOC) | ENSP00000037502.5:p.Thr209Asn |
| ENST00000614688.1:c.626C>A (MYOC) | ENSP00000478680.1:p.Thr209Asn |
| ENST00000637303.1:c.306G>T (MYOCOS) | ENSP00000490048.1:p.Lys102Asn |
| ENST00000638471.1:c.156C>A (MYOC) | ENSP00000491206.1:p.His52Gln |