HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29534244G>C , CM000679.2:g.29534244G>C | GRCh38 |
NC_000017.10:g.27861262G>C , CM000679.1:g.27861262G>C | GRCh37 |
NC_000017.9:g.24885388G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261716.8:c.2488G>C MANE Select | ENSP00000261716.3:p.Glu830Gln | |
ENST00000261716.7:c.2488G>C | ENSP00000261716.3:p.Glu830Gln | |
ENST00000536202.1:c.2044G>C | ENSP00000438819.1:p.Glu682Gln | |
NM_020791.2:c.2488G>C | NP_065842.1:p.Glu830Gln | |
NM_025142.1:c.2044G>C | NP_079418.1:p.Glu682Gln | |
XM_011525060.1:c.2488G>C | XP_011523362.1:p.Glu830Gln | |
XM_011525060.2:c.2488G>C | XP_011523362.1:p.Glu830Gln | |
NM_020791.4:c.2488G>C MANE Select | NP_065842.1:p.Glu830Gln |