HGVS | Genome Assembly |
---|---|
NC_000017.11:g.59110368G>T , CM000679.2:g.59110368G>T | GRCh38 |
NC_000017.10:g.57187729G>T , CM000679.1:g.57187729G>T | GRCh37 |
NC_000017.9:g.54542511G>T | NCBI36 |
NG_009298.1:g.1538C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000330137.12:c.*1909C>A MANE Select | ENSP00000333433.7:n.*1909C>A | |
ENST00000330137.11:c.*1909C>A | ENSP00000333433.7:n.*1909C>A | |
NM_001100595.1:c.*1965C>A | NP_001094065.1:n.*1965C>A | |
NM_182620.3:c.*1909C>A | NP_872426.1:n.*1909C>A | |
XM_011524745.1:c.*1965C>A | XP_011523047.1:n.*1965C>A | |
NM_001330399.1:c.*1965C>A | NP_001317328.1:n.*1965C>A | |
NM_182620.4:c.*1909C>A MANE Select | NP_872426.1:n.*1909C>A | |
NM_001100595.2:c.*1965C>A | NP_001094065.1:n.*1965C>A | |
NM_001330399.2:c.*1965C>A | NP_001317328.1:n.*1965C>A |