HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636395G>A , CM000663.2:g.171636395G>A | GRCh38 |
NC_000001.10:g.171605535G>A , CM000663.1:g.171605535G>A | GRCh37 |
NC_000001.9:g.169872158G>A | NCBI36 |
NG_008859.1:g.21239C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.1045C>T (MYOC) MANE Select | ENSP00000037502.5:p.Leu349= | |
ENST00000637303.1:c.235-2235G>A (MYOCOS) | ENSP00000490048.1:n.235-2235G>A | |
ENST00000638471.1:c.*383C>T (MYOC) | ENSP00000491206.1:n.*383C>T | |
ENST00000037502.10:c.1045C>T (MYOC) | ENSP00000037502.5:p.Leu349= | |
ENST00000614688.1:c.*9C>T (MYOC) | ENSP00000478680.1:n.*9C>T | |
NM_000261.1:c.1045C>T (MYOC) | NP_000252.1:p.Leu349= | |
NM_000261.2:c.1045C>T (MYOC) MANE Select | NP_000252.1:p.Leu349= |