HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47300491T>A , CM000679.2:g.47300491T>A | GRCh38 |
NC_000017.10:g.45377857T>A , CM000679.1:g.45377857T>A | GRCh37 |
NC_000017.9:g.42732856T>A | NCBI36 |
NG_008332.2:g.51650T>A , LRG_481:g.51650T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696963.1:c.1927T>A | ENSP00000513002.1:p.Cys643Ser | |
ENST00000559488.7:c.1927T>A MANE Select | ENSP00000452786.2:p.Cys643Ser | |
ENST00000559488.5:c.1927T>A | ENSP00000452786.1:p.Cys643Ser | |
ENST00000560629.1:c.1892T>A | ||
NM_000212.2:c.1927T>A , LRG_481t1:c.1927T>A | NP_000203.2:p.Cys643Ser | |
NM_000212.3:c.1927T>A MANE Select | NP_000203.2:p.Cys643Ser |