HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989173A>G , CM000672.2:g.94989173A>G | GRCh38 |
NC_000010.10:g.96748930A>G , CM000672.1:g.96748930A>G | GRCh37 |
NC_000010.9:g.96738920A>G | NCBI36 |
NG_008385.1:g.55516A>G | |
NG_008385.2:g.56016A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.*145A>G MANE Select | ENSP00000260682.6:n.*145A>G | |
ENST00000643112.1:c.*627A>G | ENSP00000496202.1:n.*627A>G | |
ENST00000260682.6:c.*145A>G | ENSP00000260682.6:n.*145A>G | |
NM_000771.3:c.*145A>G | NP_000762.2:n.*145A>G | |
NM_000771.4:c.*145A>G MANE Select | NP_000762.2:n.*145A>G |