HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636526C>A , CM000663.2:g.171636526C>A | GRCh38 |
NC_000001.10:g.171605666C>A , CM000663.1:g.171605666C>A | GRCh37 |
NC_000001.9:g.169872289C>A | NCBI36 |
NG_008859.1:g.21108G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.914G>T (MYOC) MANE Select | ENSP00000037502.5:p.Ser305Ile | |
ENST00000637303.1:c.235-2104C>A (MYOCOS) | ENSP00000490048.1:n.235-2104C>A | |
ENST00000638471.1:c.*252G>T (MYOC) | ENSP00000491206.1:n.*252G>T | |
ENST00000037502.10:c.914G>T (MYOC) | ENSP00000037502.5:p.Ser305Ile | |
ENST00000614688.1:c.914G>T (MYOC) | ENSP00000478680.1:p.Ser305Ile | |
NM_000261.1:c.914G>T (MYOC) | NP_000252.1:p.Ser305Ile | |
NM_000261.2:c.914G>T (MYOC) MANE Select | NP_000252.1:p.Ser305Ile |