HGVS | Genome Assembly |
---|---|
NC_000017.11:g.3605586G>A , CM000679.2:g.3605586G>A | GRCh38 |
NC_000017.10:g.3508880G>A , CM000679.1:g.3508880G>A | GRCh37 |
NC_000017.9:g.3455629G>A | NCBI36 |
NG_029716.1:g.8826C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000572705.2:c.-34+2841C>T MANE Select | ENSP00000459962.1:n.-34+2841C>T | |
ENST00000572705.1:c.-34+2841C>T | ENSP00000459962.1:n.-34+2841C>T | |
ENST00000572919.1:c.*1251+3723C>T | ENSP00000461416.1:n.*1251+3723C>T | |
NM_080704.3:c.-34+2841C>T | NP_542435.2:n.-34+2841C>T | |
NM_080704.4:c.-34+2841C>T MANE Select | NP_542435.2:n.-34+2841C>T |