HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734423G>T , CM000679.2:g.4734423G>T | GRCh38 |
NC_000017.10:g.4637718G>T , CM000679.1:g.4637718G>T | GRCh37 |
NC_000017.9:g.4584467G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.*80C>A MANE Select | ENSP00000293778.7:n.*80C>A | |
ENST00000574412.6:c.*183C>A | ENSP00000459592.2:n.*183C>A | |
ENST00000293778.10:c.*80C>A | ENSP00000293778.6:n.*80C>A | |
ENST00000574412.5:c.*183C>A | ENSP00000459592.1:n.*183C>A | |
ENST00000576153.5:n.636C>A | ||
NM_022059.3:c.*80C>A | NP_071342.2:n.*80C>A | |
NM_022059.4:c.*80C>A | NP_071342.2:n.*80C>A | |
NM_001386809.1:c.*80C>A MANE Select | NP_001373738.1:n.*80C>A |