HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636417G>C , CM000663.2:g.171636417G>C | GRCh38 |
NC_000001.10:g.171605557G>C , CM000663.1:g.171605557G>C | GRCh37 |
NC_000001.9:g.169872180G>C | NCBI36 |
NG_008859.1:g.21217C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.1023C>G (MYOC) MANE Select | ENSP00000037502.5:p.Ser341= | |
ENST00000637303.1:c.235-2213G>C (MYOCOS) | ENSP00000490048.1:n.235-2213G>C | |
ENST00000638471.1:c.*361C>G (MYOC) | ENSP00000491206.1:n.*361C>G | |
ENST00000037502.10:c.1023C>G (MYOC) | ENSP00000037502.5:p.Ser341= | |
ENST00000614688.1:c.1022C>G (MYOC) | ENSP00000478680.1:p.Pro341Arg | |
NM_000261.1:c.1023C>G (MYOC) | NP_000252.1:p.Ser341= | |
NM_000261.2:c.1023C>G (MYOC) MANE Select | NP_000252.1:p.Ser341= |