HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218733C>A , CM000676.2:g.93218733C>A | GRCh38 |
NC_000014.8:g.93685079C>A , CM000676.1:g.93685079C>A | GRCh37 |
NC_000014.7:g.92754832C>A | NCBI36 |
NG_051089.1:g.16678C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.808C>A MANE Select | ENSP00000013070.6:p.Gln270Lys | |
ENST00000013070.10:c.808C>A | ENSP00000013070.6:p.Gln270Lys | |
ENST00000416753.5:c.580C>A | ENSP00000391706.2:p.Gln194Lys | |
ENST00000553674.1:c.*509C>A | ENSP00000450470.1:n.*509C>A | |
ENST00000553857.5:c.378+3452C>A | ||
ENST00000555329.1:c.53C>A | ||
NM_175748.3:c.808C>A | NP_786924.2:p.Gln270Lys | |
NR_038150.1:n.910C>A | ||
NM_175748.4:c.808C>A MANE Select | NP_786924.2:p.Gln270Lys | |
NR_038150.2:n.710C>A |