HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87709216C>G , CM000672.2:g.87709216C>G | GRCh38 |
NC_000010.10:g.89468973C>G , CM000672.1:g.89468973C>G | GRCh37 |
NC_000010.9:g.89458953C>G | NCBI36 |
NG_012150.1:g.54498C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000456849.2:c.48C>G MANE Select | ENSP00000406157.1:p.Thr16= | |
ENST00000361175.8:c.48C>G | ENSP00000354436.4:p.Thr16= | |
ENST00000456849.1:c.48C>G | ENSP00000406157.1:p.Thr16= | |
ENST00000465996.5:n.70C>G | ||
ENST00000482258.1:n.91C>G | ||
NM_001015880.1:c.48C>G | NP_001015880.1:p.Thr16= | |
NM_004670.3:c.48C>G | NP_004661.2:p.Thr16= | |
NM_001015880.2:c.48C>G MANE Select | NP_001015880.1:p.Thr16= | |
NM_004670.4:c.48C>G | NP_004661.2:p.Thr16= |