HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862771C>G , CM000666.2:g.4862771C>G | GRCh38 |
NC_000004.11:g.4864498C>G , CM000666.1:g.4864498C>G | GRCh37 |
NC_000004.10:g.4915399C>G | NCBI36 |
NG_008121.1:g.8107C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.540C>G MANE Select | ENSP00000372170.4:p.Thr180= | |
ENST00000382723.4:c.540C>G | ENSP00000372170.4:p.Thr180= | |
ENST00000468421.1:n.252C>G | ||
NM_002448.3:c.540C>G MANE Select | NP_002439.2:p.Thr180= |