HGVS | Genome Assembly |
---|---|
NC_000005.10:g.168510601C>T , CM000667.2:g.168510601C>T | GRCh38 |
NC_000005.9:g.167937606C>T , CM000667.1:g.167937606C>T | GRCh37 |
NC_000005.8:g.167870184C>T | NCBI36 |
NG_041809.1:g.29144C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000231572.8:c.1367C>T MANE Select | ENSP00000231572.3:p.Ser456Leu | |
ENST00000231572.7:c.1367C>T | ENSP00000231572.3:p.Ser456Leu | |
ENST00000520013.5:c.*868C>T | ENSP00000429030.1:n.*868C>T | |
NM_002887.3:c.1367C>T | NP_002878.2:p.Ser456Leu | |
NM_002887.4:c.1367C>T MANE Select | NP_002878.2:p.Ser456Leu |