HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171635615T>C , CM000663.2:g.171635615T>C | GRCh38 |
NC_000001.10:g.171604755T>C , CM000663.1:g.171604755T>C | GRCh37 |
NC_000001.9:g.169871378T>C | NCBI36 |
NG_008859.1:g.22019A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.*310A>G (MYOC) MANE Select | ENSP00000037502.5:n.*310A>G | |
ENST00000637303.1:c.235-3015T>C (MYOCOS) | ENSP00000490048.1:n.235-3015T>C | |
ENST00000638471.1:c.*1163A>G (MYOC) | ENSP00000491206.1:n.*1163A>G | |
ENST00000037502.10:c.*310A>G (MYOC) | ENSP00000037502.5:n.*310A>G | |
ENST00000614688.1:c.*789A>G (MYOC) | ENSP00000478680.1:n.*789A>G | |
NM_000261.1:c.*310A>G (MYOC) | NP_000252.1:n.*310A>G | |
NM_000261.2:c.*310A>G (MYOC) MANE Select | NP_000252.1:n.*310A>G |