HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636156A>G , CM000663.2:g.171636156A>G | GRCh38 |
NC_000001.10:g.171605296A>G , CM000663.1:g.171605296A>G | GRCh37 |
NC_000001.9:g.169871919A>G | NCBI36 |
NG_008859.1:g.21478T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.1284T>C (MYOC) MANE Select | ENSP00000037502.5:p.Asn428= | |
ENST00000637303.1:c.235-2474A>G (MYOCOS) | ENSP00000490048.1:n.235-2474A>G | |
ENST00000638471.1:c.*622T>C (MYOC) | ENSP00000491206.1:n.*622T>C | |
ENST00000037502.10:c.1284T>C (MYOC) | ENSP00000037502.5:p.Asn428= | |
ENST00000614688.1:c.*248T>C (MYOC) | ENSP00000478680.1:n.*248T>C | |
NM_000261.1:c.1284T>C (MYOC) | NP_000252.1:p.Asn428= | |
NM_000261.2:c.1284T>C (MYOC) MANE Select | NP_000252.1:p.Asn428= |