HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174729310C>T , CM000667.2:g.174729310C>T | GRCh38 |
NC_000005.9:g.174156313C>T , CM000667.1:g.174156313C>T | GRCh37 |
NC_000005.8:g.174088919C>T | NCBI36 |
NG_008124.1:g.9739C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.531C>T MANE Select | ENSP00000239243.5:p.Ser177= | |
ENST00000239243.6:c.531C>T | ENSP00000239243.5:p.Ser177= | |
ENST00000507785.2:c.*155C>T | ENSP00000427425.1:n.*155C>T | |
NM_002449.4:c.531C>T | NP_002440.2:p.Ser177= | |
NM_001363626.1:c.*155C>T | NP_001350555.1:n.*155C>T | |
NM_002449.5:c.531C>T MANE Select | NP_002440.2:p.Ser177= | |
NM_001363626.2:c.*155C>T | NP_001350555.1:n.*155C>T |