HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87727316C>T , CM000672.2:g.87727316C>T | GRCh38 |
NC_000010.10:g.89487073C>T , CM000672.1:g.89487073C>T | GRCh37 |
NC_000010.9:g.89477053C>T | NCBI36 |
NG_012150.1:g.72598C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456849.2:c.913C>T MANE Select | ENSP00000406157.1:p.Leu305= | |
ENST00000361175.8:c.898C>T | ENSP00000354436.4:p.Leu300= | |
ENST00000456849.1:c.913C>T | ENSP00000406157.1:p.Leu305= | |
NM_001015880.1:c.913C>T | NP_001015880.1:p.Leu305= | |
NM_004670.3:c.898C>T | NP_004661.2:p.Leu300= | |
NM_001015880.2:c.913C>T MANE Select | NP_001015880.1:p.Leu305= | |
NM_004670.4:c.898C>T | NP_004661.2:p.Leu300= |