HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636691C>T , CM000663.2:g.171636691C>T | GRCh38 |
NC_000001.10:g.171605831C>T , CM000663.1:g.171605831C>T | GRCh37 |
NC_000001.9:g.169872454C>T | NCBI36 |
NG_008859.1:g.20943G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.749G>A (MYOC) MANE Select | ENSP00000037502.5:p.Trp250Ter | |
ENST00000637303.1:c.235-1939C>T (MYOCOS) | ENSP00000490048.1:n.235-1939C>T | |
ENST00000638471.1:c.*87G>A (MYOC) | ENSP00000491206.1:n.*87G>A | |
ENST00000037502.10:c.749G>A (MYOC) | ENSP00000037502.5:p.Trp250Ter | |
ENST00000614688.1:c.749G>A (MYOC) | ENSP00000478680.1:p.Trp250Ter | |
NM_000261.1:c.749G>A (MYOC) | NP_000252.1:p.Trp250Ter | |
NM_000261.2:c.749G>A (MYOC) MANE Select | NP_000252.1:p.Trp250Ter |