HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218890258C>G , CM000664.2:g.218890258C>G | GRCh38 |
NC_000002.11:g.219754980C>G , CM000664.1:g.219754980C>G | GRCh37 |
NC_000002.10:g.219463224C>G | NCBI36 |
NG_012179.1:g.14726C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.651C>G MANE Select | ENSP00000258411.3:p.Asp217Glu | |
ENST00000258411.7:c.651C>G | ENSP00000258411.3:p.Asp217Glu | |
ENST00000458582.1:c.264-2516C>G | ||
NM_025216.2:c.651C>G | NP_079492.2:p.Asp217Glu | |
XM_011511928.1:c.600C>G | XP_011510230.1:p.Asp200Glu | |
XM_011511929.1:c.555C>G | XP_011510231.1:p.Asp185Glu | |
XM_011511930.1:c.377-2516C>G | XP_011510232.1:n.377-2516C>G | |
XM_011511929.2:c.555C>G | XP_011510231.1:p.Asp185Glu | |
NM_025216.3:c.651C>G MANE Select | NP_079492.2:p.Asp217Glu |