HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1610757C>T , CM000668.2:g.1610757C>T | GRCh38 |
NC_000006.11:g.1610992C>T , CM000668.1:g.1610992C>T | GRCh37 |
NC_000006.10:g.1555991C>T | NCBI36 |
NG_009368.1:g.5312C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.312C>T MANE Select | ENSP00000493906.1:p.Ile104= | |
ENST00000380874.3:c.312C>T | ENSP00000370256.2:p.Ile104= | |
NM_001453.2:c.312C>T | NP_001444.2:p.Ile104= | |
NM_001453.3:c.312C>T MANE Select | NP_001444.2:p.Ile104= |