HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87727456G= , CM000672.2:g.87727456G= | GRCh38 |
NC_000010.10:g.89487213G= , CM000672.1:g.89487213G= | GRCh37 |
NC_000010.9:g.89477193G= | NCBI36 |
NG_012150.1:g.72738G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456849.2:c.1053G= MANE Select | ENSP00000406157.1:p.Trp351= | |
ENST00000361175.8:c.1038G= | ENSP00000354436.4:p.Trp346= | |
ENST00000456849.1:c.1053G= | ENSP00000406157.1:p.Trp351= | |
NM_001015880.1:c.1053G= | NP_001015880.1:p.Trp351= | |
NM_004670.3:c.1038G= | NP_004661.2:p.Trp346= | |
NM_001015880.2:c.1053G= MANE Select | NP_001015880.1:p.Trp351= | |
NM_004670.4:c.1038G= | NP_004661.2:p.Trp346= |