HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81646404A>C , CM000665.2:g.81646404A>C | GRCh38 |
NC_000003.11:g.81695555A>C , CM000665.1:g.81695555A>C | GRCh37 |
NC_000003.10:g.81778245A>C | NCBI36 |
NG_011810.1:g.120397T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.770T>G MANE Select | ENSP00000410833.2:p.Phe257Cys | |
ENST00000429644.6:c.770T>G | ENSP00000410833.2:p.Phe257Cys | |
ENST00000489715.1:c.647T>G | ENSP00000419638.1:p.Phe216Cys | |
ENST00000498468.1:n.320T>G | ||
NM_000158.3:c.770T>G | NP_000149.3:p.Phe257Cys | |
NM_000158.4:c.770T>G MANE Select | NP_000149.4:p.Phe257Cys |