HGVS | Genome Assembly |
---|---|
NC_000004.12:g.24800368C= , CM000666.2:g.24800368C= | GRCh38 |
NC_000004.11:g.24801990C= , CM000666.1:g.24801990C= | GRCh37 |
NC_000004.10:g.24411088C= | NCBI36 |
NG_012213.1:g.9906C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382120.4:c.*124C= MANE Select | ENSP00000371554.3:n.*124C= | |
ENST00000382120.3:c.*124C= | ENSP00000371554.3:n.*124C= | |
NM_003102.2:c.*124C= | NP_003093.2:n.*124C= | |
XR_427488.1:n.1037C= | ||
NM_003102.3:c.*124C= | NP_003093.2:n.*124C= | |
NM_003102.4:c.*124C= MANE Select | NP_003093.2:n.*124C= |