HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636191A>G , CM000663.2:g.171636191A>G | GRCh38 |
NC_000001.10:g.171605331A>G , CM000663.1:g.171605331A>G | GRCh37 |
NC_000001.9:g.169871954A>G | NCBI36 |
NG_008859.1:g.21443T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000037502.11:c.1249T>C (MYOC) MANE Select | ENSP00000037502.5:p.Trp417Arg | |
ENST00000637303.1:c.235-2439A>G (MYOCOS) | ENSP00000490048.1:n.235-2439A>G | |
ENST00000638471.1:c.*587T>C (MYOC) | ENSP00000491206.1:n.*587T>C | |
ENST00000037502.10:c.1249T>C (MYOC) | ENSP00000037502.5:p.Trp417Arg | |
ENST00000614688.1:c.*213T>C (MYOC) | ENSP00000478680.1:n.*213T>C | |
NM_000261.1:c.1249T>C (MYOC) | NP_000252.1:p.Trp417Arg | |
NM_000261.2:c.1249T>C (MYOC) MANE Select | NP_000252.1:p.Trp417Arg |