HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174729385G>A , CM000667.2:g.174729385G>A | GRCh38 |
NC_000005.9:g.174156388G>A , CM000667.1:g.174156388G>A | GRCh37 |
NC_000005.8:g.174088994G>A | NCBI36 |
NG_008124.1:g.9814G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.606G>A MANE Select | ENSP00000239243.5:p.Glu202= | |
ENST00000239243.6:c.606G>A | ENSP00000239243.5:p.Glu202= | |
ENST00000507785.2:c.*230G>A | ENSP00000427425.1:n.*230G>A | |
NM_002449.4:c.606G>A | NP_002440.2:p.Glu202= | |
NM_001363626.1:c.*230G>A | NP_001350555.1:n.*230G>A | |
NM_002449.5:c.606G>A MANE Select | NP_002440.2:p.Glu202= | |
NM_001363626.2:c.*230G>A | NP_001350555.1:n.*230G>A |