HGVS | Genome Assembly |
---|---|
NC_000001.11:g.64833127C>A , CM000663.2:g.64833127C>A | GRCh38 |
NC_000001.10:g.65298810C>A , CM000663.1:g.65298810C>A | GRCh37 |
NC_000001.9:g.65071398C>A | NCBI36 |
NG_023402.1:g.138378G>T | |
NG_023402.2:g.239620G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000294428.8:c.*2142C>A MANE Select | ENSP00000294428.3:n.*2142C>A | |
ENST00000294428.7:c.*2142C>A | ENSP00000294428.3:n.*2142C>A | |
ENST00000371072.8:c.*2142C>A | ENSP00000360112.4:n.*2142C>A | |
NM_018211.3:c.*2142C>A | NP_060681.2:n.*2142C>A | |
XM_006710738.2:c.*2142C>A | XP_006710801.2:n.*2142C>A | |
NM_001366165.1:c.*2142C>A | NP_001353094.1:n.*2142C>A | |
XR_946693.3:n.4561C>A | ||
NM_018211.4:c.*2142C>A | NP_060681.2:n.*2142C>A | |
NM_001366165.2:c.*2142C>A MANE Select | NP_001353094.1:n.*2142C>A |