HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945463G>A , CM000665.2:g.138945463G>A | GRCh38 |
NC_000003.11:g.138664305G>A , CM000665.1:g.138664305G>A | GRCh37 |
NC_000003.10:g.140146995G>A | NCBI36 |
NG_012454.1:g.6678C>T | |
NG_029796.1:g.3230G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.*129C>T MANE Select | ENSP00000497217.1:n.*129C>T | |
ENST00000330315.3:c.*129C>T | ENSP00000333188.3:n.*129C>T | |
NM_023067.3:c.*129C>T | NP_075555.1:n.*129C>T | |
NM_023067.4:c.*129C>T MANE Select | NP_075555.1:n.*129C>T |