HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218723A>T , CM000676.2:g.93218723A>T | GRCh38 |
NC_000014.8:g.93685069A>T , CM000676.1:g.93685069A>T | GRCh37 |
NC_000014.7:g.92754822A>T | NCBI36 |
NG_051089.1:g.16668A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.798A>T MANE Select | ENSP00000013070.6:p.Glu266Asp | |
ENST00000013070.10:c.798A>T | ENSP00000013070.6:p.Glu266Asp | |
ENST00000416753.5:c.570A>T | ENSP00000391706.2:p.Glu190Asp | |
ENST00000553674.1:c.*499A>T | ENSP00000450470.1:n.*499A>T | |
ENST00000553857.5:c.378+3442A>T | ||
ENST00000555329.1:c.43A>T | ||
NM_175748.3:c.798A>T | NP_786924.2:p.Glu266Asp | |
NR_038150.1:n.900A>T | ||
NM_175748.4:c.798A>T MANE Select | NP_786924.2:p.Glu266Asp | |
NR_038150.2:n.700A>T |