HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29534245A>C , CM000679.2:g.29534245A>C | GRCh38 |
NC_000017.10:g.27861263A>C , CM000679.1:g.27861263A>C | GRCh37 |
NC_000017.9:g.24885389A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261716.8:c.2489A>C MANE Select | ENSP00000261716.3:p.Glu830Ala | |
ENST00000261716.7:c.2489A>C | ENSP00000261716.3:p.Glu830Ala | |
ENST00000536202.1:c.2045A>C | ENSP00000438819.1:p.Glu682Ala | |
NM_020791.2:c.2489A>C | NP_065842.1:p.Glu830Ala | |
NM_025142.1:c.2045A>C | NP_079418.1:p.Glu682Ala | |
XM_011525060.1:c.2489A>C | XP_011523362.1:p.Glu830Ala | |
XM_011525060.2:c.2489A>C | XP_011523362.1:p.Glu830Ala | |
NM_020791.4:c.2489A>C MANE Select | NP_065842.1:p.Glu830Ala |