HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940288T>A , CM000678.2:g.67940288T>A | GRCh38 |
NC_000016.9:g.67974191T>A , CM000678.1:g.67974191T>A | GRCh37 |
NC_000016.8:g.66531692T>A | NCBI36 |
NG_009778.1:g.8825A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.939A>T MANE Select | ENSP00000264005.5:p.Glu313Asp | |
ENST00000264005.9:c.939A>T | ENSP00000264005.5:p.Glu313Asp | |
ENST00000570369.5:c.156-214A>T | ||
ENST00000570980.1:c.723A>T | ENSP00000464651.1:p.Glu241Asp | |
ENST00000573538.5:c.677A>T | ENSP00000463220.1:n.677A>T | |
NM_000229.1:c.939A>T | NP_000220.1:p.Glu313Asp | |
NM_000229.2:c.939A>T MANE Select | NP_000220.1:p.Glu313Asp |