HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326123A>C , CM000678.2:g.2326123A>C | GRCh38 |
NC_000016.9:g.2376124A>C , CM000678.1:g.2376124A>C | GRCh37 |
NC_000016.8:g.2316125A>C | NCBI36 |
NG_011790.1:g.19624T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301732.10:c.206T>G MANE Select | ENSP00000301732.5:p.Phe69Cys | |
ENST00000301732.9:c.206T>G | ENSP00000301732.5:p.Phe69Cys | |
ENST00000382381.7:c.206T>G | ENSP00000371818.3:p.Phe69Cys | |
ENST00000563623.5:n.769T>G | ||
ENST00000567910.1:c.206T>G | ENSP00000454397.1:p.Phe69Cys | |
NM_001089.2:c.206T>G | NP_001080.2:p.Phe69Cys | |
NM_001089.3:c.206T>G MANE Select | NP_001080.2:p.Phe69Cys |