HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218660G>A , CM000676.2:g.93218660G>A | GRCh38 |
NC_000014.8:g.93685006G>A , CM000676.1:g.93685006G>A | GRCh37 |
NC_000014.7:g.92754759G>A | NCBI36 |
NG_051089.1:g.16605G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000013070.11:c.735G>A MANE Select | ENSP00000013070.6:p.Lys245= | |
ENST00000013070.10:c.735G>A | ENSP00000013070.6:p.Lys245= | |
ENST00000416753.5:c.507G>A | ENSP00000391706.2:p.Lys169= | |
ENST00000553674.1:c.*436G>A | ENSP00000450470.1:n.*436G>A | |
ENST00000553857.5:c.378+3379G>A | ||
ENST00000556871.5:c.444G>A | ENSP00000451022.1:p.Lys148= | |
NM_175748.3:c.735G>A | NP_786924.2:p.Lys245= | |
NR_038150.1:n.837G>A | ||
NM_175748.4:c.735G>A MANE Select | NP_786924.2:p.Lys245= | |
NR_038150.2:n.637G>A |