HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734403G>A , CM000679.2:g.4734403G>A | GRCh38 |
NC_000017.10:g.4637698G>A , CM000679.1:g.4637698G>A | GRCh37 |
NC_000017.9:g.4584447G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*100C>T MANE Select | ENSP00000293778.7:n.*100C>T | |
ENST00000574412.6:c.*203C>T | ENSP00000459592.2:n.*203C>T | |
ENST00000293778.10:c.*100C>T | ENSP00000293778.6:n.*100C>T | |
ENST00000574412.5:c.*203C>T | ENSP00000459592.1:n.*203C>T | |
ENST00000576153.5:n.656C>T | ||
NM_022059.3:c.*100C>T | NP_071342.2:n.*100C>T | |
NM_022059.4:c.*100C>T | NP_071342.2:n.*100C>T | |
NM_001386809.1:c.*100C>T MANE Select | NP_001373738.1:n.*100C>T |