HGVS | Genome Assembly |
---|---|
NC_000010.11:g.16899115C>T , CM000672.2:g.16899115C>T | GRCh38 |
NC_000010.10:g.16941114C>T , CM000672.1:g.16941114C>T | GRCh37 |
NC_000010.9:g.16981120C>T | NCBI36 |
NG_008967.1:g.235703G>A , LRG_540:g.235703G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.8479G>A MANE Select | ENSP00000367064.4:p.Glu2827Lys | |
ENST00000377833.8:c.8479G>A | ENSP00000367064.4:p.Glu2827Lys | |
NM_001081.3:c.8479G>A , LRG_540t1:c.8479G>A | NP_001072.2:p.Glu2827Lys | |
XM_011519708.1:c.8479G>A | XP_011518010.1:p.Glu2827Lys | |
XM_011519709.1:c.4465G>A | XP_011518011.1:p.Glu1489Lys | |
XM_011519710.1:c.4441G>A | XP_011518012.1:p.Glu1481Lys | |
XM_011519711.1:c.4321G>A | XP_011518013.1:p.Glu1441Lys | |
XM_011519708.2:c.8479G>A | XP_011518010.1:p.Glu2827Lys | |
XM_011519709.2:c.4465G>A | XP_011518011.1:p.Glu1489Lys | |
XM_011519710.2:c.4441G>A | XP_011518012.1:p.Glu1481Lys | |
XM_011519711.3:c.4321G>A | XP_011518013.1:p.Glu1441Lys | |
NM_001081.4:c.8479G>A MANE Select | NP_001072.2:p.Glu2827Lys |