HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636487A>G , CM000663.2:g.171636487A>G | GRCh38 |
NC_000001.10:g.171605627A>G , CM000663.1:g.171605627A>G | GRCh37 |
NC_000001.9:g.169872250A>G | NCBI36 |
NG_008859.1:g.21147T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.953T>C (MYOC) MANE Select | ENSP00000037502.5:p.Leu318Pro | |
ENST00000637303.1:c.235-2143A>G (MYOCOS) | ENSP00000490048.1:n.235-2143A>G | |
ENST00000638471.1:c.*291T>C (MYOC) | ENSP00000491206.1:n.*291T>C | |
ENST00000037502.10:c.953T>C (MYOC) | ENSP00000037502.5:p.Leu318Pro | |
ENST00000614688.1:c.953T>C (MYOC) | ENSP00000478680.1:p.Leu318Pro | |
NM_000261.1:c.953T>C (MYOC) | NP_000252.1:p.Leu318Pro | |
NM_000261.2:c.953T>C (MYOC) MANE Select | NP_000252.1:p.Leu318Pro |