HGVS | Genome Assembly |
---|---|
NC_000023.11:g.120627241T>A , CM000685.2:g.120627241T>A | GRCh38 |
NC_000023.10:g.119761096T>A , CM000685.1:g.119761096T>A | GRCh37 |
NC_000023.9:g.119645124T>A | NCBI36 |
NG_016219.1:g.7910A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304661.6:c.-5-70A>T MANE Select | ENSP00000304364.5:n.-5-70A>T | |
ENST00000304661.5:c.-5-70A>T | ENSP00000304364.5:n.-5-70A>T | |
ENST00000371313.2:c.-6+15A>T | ENSP00000360363.2:n.-6+15A>T | |
NM_001011551.2:c.-5-70A>T | NP_001011551.1:n.-5-70A>T | |
NM_152692.4:c.-6+15A>T | NP_689905.1:n.-6+15A>T | |
NM_001011551.3:c.-5-70A>T MANE Select | NP_001011551.1:n.-5-70A>T | |
NM_152692.5:c.-6+15A>T | NP_689905.1:n.-6+15A>T |