HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171635854C>G , CM000663.2:g.171635854C>G | GRCh38 |
NC_000001.10:g.171604994C>G , CM000663.1:g.171604994C>G | GRCh37 |
NC_000001.9:g.169871617C>G | NCBI36 |
NG_008859.1:g.21780G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.*71G>C (MYOC) MANE Select | ENSP00000037502.5:n.*71G>C | |
ENST00000637303.1:c.235-2776C>G (MYOCOS) | ENSP00000490048.1:n.235-2776C>G | |
ENST00000638471.1:c.*924G>C (MYOC) | ENSP00000491206.1:n.*924G>C | |
ENST00000037502.10:c.*71G>C (MYOC) | ENSP00000037502.5:n.*71G>C | |
ENST00000614688.1:c.*550G>C (MYOC) | ENSP00000478680.1:n.*550G>C | |
NM_000261.1:c.*71G>C (MYOC) | NP_000252.1:n.*71G>C | |
NM_000261.2:c.*71G>C (MYOC) MANE Select | NP_000252.1:n.*71G>C |