HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23424041C>T , CM000676.2:g.23424041C>T | GRCh38 |
NC_000014.8:g.23893250C>T , CM000676.1:g.23893250C>T | GRCh37 |
NC_000014.7:g.22963090C>T | NCBI36 |
NG_007884.1:g.16621G>A , LRG_384:g.16621G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2788G>A MANE Select | ENSP00000347507.3:p.Glu930Lys | |
ENST00000355349.3:c.2788G>A | ENSP00000347507.3:p.Glu930Lys | |
NM_000257.3:c.2788G>A | NP_000248.2:p.Glu930Lys | |
XR_245686.3:n.2894G>A | ||
XM_017021340.1:c.2788G>A | XP_016876829.1:p.Glu930Lys | |
NM_000257.4:c.2788G>A MANE Select | NP_000248.2:p.Glu930Lys |