HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636700T>G , CM000663.2:g.171636700T>G | GRCh38 |
NC_000001.10:g.171605840T>G , CM000663.1:g.171605840T>G | GRCh37 |
NC_000001.9:g.169872463T>G | NCBI36 |
NG_008859.1:g.20934A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.740A>C (MYOC) MANE Select | ENSP00000037502.5:p.Glu247Ala | |
ENST00000637303.1:c.235-1930T>G (MYOCOS) | ENSP00000490048.1:n.235-1930T>G | |
ENST00000638471.1:c.*78A>C (MYOC) | ENSP00000491206.1:n.*78A>C | |
ENST00000037502.10:c.740A>C (MYOC) | ENSP00000037502.5:p.Glu247Ala | |
ENST00000614688.1:c.740A>C (MYOC) | ENSP00000478680.1:p.Glu247Ala | |
NM_000261.1:c.740A>C (MYOC) | NP_000252.1:p.Glu247Ala | |
NM_000261.2:c.740A>C (MYOC) MANE Select | NP_000252.1:p.Glu247Ala |