HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171636238A>C , CM000663.2:g.171636238A>C | GRCh38 |
NC_000001.10:g.171605378A>C , CM000663.1:g.171605378A>C | GRCh37 |
NC_000001.9:g.169872001A>C | NCBI36 |
NG_008859.1:g.21396T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000037502.11:c.1202T>G (MYOC) MANE Select | ENSP00000037502.5:p.Ile401Ser | |
ENST00000637303.1:c.235-2392A>C (MYOCOS) | ENSP00000490048.1:n.235-2392A>C | |
ENST00000638471.1:c.*540T>G (MYOC) | ENSP00000491206.1:n.*540T>G | |
ENST00000037502.10:c.1202T>G (MYOC) | ENSP00000037502.5:p.Ile401Ser | |
ENST00000614688.1:c.*166T>G (MYOC) | ENSP00000478680.1:n.*166T>G | |
NM_000261.1:c.1202T>G (MYOC) | NP_000252.1:p.Ile401Ser | |
NM_000261.2:c.1202T>G (MYOC) MANE Select | NP_000252.1:p.Ile401Ser |