HGVS | Genome Assembly |
---|---|
NC_000002.12:g.170965956C>T , CM000664.2:g.170965956C>T | GRCh38 |
NC_000002.11:g.171822466C>T , CM000664.1:g.171822466C>T | GRCh37 |
NC_000002.10:g.171530712C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234160.5:c.1185C>T MANE Select | ENSP00000234160.4:p.Ser395= | |
ENST00000234160.4:c.1185C>T | ENSP00000234160.4:p.Ser395= | |
ENST00000442798.5:c.*1217C>T | ENSP00000399889.1:n.*1217C>T | |
ENST00000486498.1:n.1451C>T | ||
NM_001201428.1:c.981C>T | NP_001188357.1:p.Ser327= | |
NM_015530.4:c.1185C>T | NP_056345.3:p.Ser395= | |
XM_006712408.2:c.981C>T | XP_006712471.1:p.Ser327= | |
NM_015530.5:c.1185C>T MANE Select | NP_056345.3:p.Ser395= | |
NM_001201428.2:c.981C>T | NP_001188357.1:p.Ser327= |