HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636190C= , CM000663.2:g.171636190C= | GRCh38 |
NC_000001.10:g.171605330C= , CM000663.1:g.171605330C= | GRCh37 |
NC_000001.9:g.169871953C= | NCBI36 |
NG_008859.1:g.21444G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000037502.11:c.1250G= (MYOC) MANE Select | ENSP00000037502.5:p.Trp417= | |
ENST00000637303.1:c.235-2440C= (MYOCOS) | ENSP00000490048.1:n.235-2440C= | |
ENST00000638471.1:c.*588G= (MYOC) | ENSP00000491206.1:n.*588G= | |
ENST00000037502.10:c.1250G= (MYOC) | ENSP00000037502.5:p.Trp417= | |
ENST00000614688.1:c.*214G= (MYOC) | ENSP00000478680.1:n.*214G= | |
NM_000261.1:c.1250G= (MYOC) | NP_000252.1:p.Trp417= | |
NM_000261.2:c.1250G= (MYOC) MANE Select | NP_000252.1:p.Trp417= |