HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114658C>T , CM000667.2:g.140114658C>T | GRCh38 |
NC_000005.9:g.139494243C>T , CM000667.1:g.139494243C>T | GRCh37 |
NC_000005.8:g.139474427C>T | NCBI36 |
NG_041813.1:g.5536C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.477C>T MANE Select | ENSP00000332706.3:p.Leu159= | |
ENST00000651386.1:c.477C>T | ENSP00000499133.1:p.Leu159= | |
ENST00000331327.4:c.477C>T | ENSP00000332706.3:p.Leu159= | |
NM_005859.4:c.477C>T | NP_005850.1:p.Leu159= | |
NM_005859.5:c.477C>T MANE Select | NP_005850.1:p.Leu159= |