HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636173T>A , CM000663.2:g.171636173T>A | GRCh38 |
NC_000001.10:g.171605313T>A , CM000663.1:g.171605313T>A | GRCh37 |
NC_000001.9:g.169871936T>A | NCBI36 |
NG_008859.1:g.21461A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.1267A>T (MYOC) MANE Select | ENSP00000037502.5:p.Lys423Ter | |
ENST00000637303.1:c.235-2457T>A (MYOCOS) | ENSP00000490048.1:n.235-2457T>A | |
ENST00000638471.1:c.*605A>T (MYOC) | ENSP00000491206.1:n.*605A>T | |
ENST00000037502.10:c.1267A>T (MYOC) | ENSP00000037502.5:p.Lys423Ter | |
ENST00000614688.1:c.*231A>T (MYOC) | ENSP00000478680.1:n.*231A>T | |
NM_000261.1:c.1267A>T (MYOC) | NP_000252.1:p.Lys423Ter | |
NM_000261.2:c.1267A>T (MYOC) MANE Select | NP_000252.1:p.Lys423Ter |