HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109264313G>A , CM000663.2:g.109264313G>A | GRCh38 |
NC_000001.10:g.109806935G>A , CM000663.1:g.109806935G>A | GRCh37 |
NC_000001.9:g.109608458G>A | NCBI36 |
NG_052669.1:g.19609G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271332.4:c.5237G>A MANE Select | ENSP00000271332.3:p.Gly1746Glu | |
ENST00000271332.3:c.5237G>A | ENSP00000271332.3:p.Gly1746Glu | |
NM_001408.2:c.5237G>A | NP_001399.1:p.Gly1746Glu | |
XM_005270580.3:c.5237G>A | XP_005270637.1:p.Gly1746Glu | |
NM_001408.3:c.5237G>A MANE Select | NP_001399.1:p.Gly1746Glu |