HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323228G= , CM000667.2:g.159323228G= | GRCh38 |
NC_000005.9:g.158750236G= , CM000667.1:g.158750236G= | GRCh37 |
NC_000005.8:g.158682814G= | NCBI36 |
NG_009618.1:g.12246C= , LRG_71:g.12246C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2708C= | ENSP00000512849.1:n.-148-2708C= | |
ENST00000696751.1:c.190C= | ENSP00000512850.1:p.Gln64= | |
ENST00000231228.3:c.190C= MANE Select | ENSP00000231228.2:p.Gln64= | |
ENST00000231228.2:c.190C= | ENSP00000231228.2:p.Gln64= | |
NM_002187.2:c.190C= , LRG_71t1:c.190C= | NP_002178.2:p.Gln64= | |
XR_001742945.1:n.148-2306G= | ||
NM_002187.3:c.190C= MANE Select | NP_002178.2:p.Gln64= |