HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154472C>A , CM000668.2:g.3154472C>A | GRCh38 |
NC_000006.11:g.3154706C>A , CM000668.1:g.3154706C>A | GRCh37 |
NC_000006.10:g.3099705C>A | NCBI36 |
NG_042223.1:g.8078G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333628.4:c.729G>T MANE Select | ENSP00000369703.2:p.Pro243= | |
ENST00000679400.1:n.785G>T | ||
ENST00000679907.1:n.1117G>T | ||
ENST00000680036.1:n.1511G>T | ||
ENST00000680967.1:n.1819G>T | ||
ENST00000333628.3:c.729G>T | ENSP00000369703.2:p.Pro243= | |
NM_001069.2:c.729G>T | NP_001060.1:p.Pro243= | |
NM_001310315.1:c.474G>T | NP_001297244.1:p.Pro158= | |
NM_001069.3:c.729G>T MANE Select | NP_001060.1:p.Pro243= | |
NM_001310315.2:c.474G>T | NP_001297244.1:p.Pro158= |