HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636236C>G , CM000663.2:g.171636236C>G | GRCh38 |
NC_000001.10:g.171605376C>G , CM000663.1:g.171605376C>G | GRCh37 |
NC_000001.9:g.169871999C>G | NCBI36 |
NG_008859.1:g.21398G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000037502.11:c.1204G>C (MYOC) MANE Select | ENSP00000037502.5:p.Val402Leu | |
ENST00000637303.1:c.235-2394C>G (MYOCOS) | ENSP00000490048.1:n.235-2394C>G | |
ENST00000638471.1:c.*542G>C (MYOC) | ENSP00000491206.1:n.*542G>C | |
ENST00000037502.10:c.1204G>C (MYOC) | ENSP00000037502.5:p.Val402Leu | |
ENST00000614688.1:c.*168G>C (MYOC) | ENSP00000478680.1:n.*168G>C | |
NM_000261.1:c.1204G>C (MYOC) | NP_000252.1:p.Val402Leu | |
NM_000261.2:c.1204G>C (MYOC) MANE Select | NP_000252.1:p.Val402Leu |