HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47339694C>T , CM000673.2:g.47339694C>T | GRCh38 |
NC_000011.9:g.47361245C>T , CM000673.1:g.47361245C>T | GRCh37 |
NC_000011.8:g.47317821C>T | NCBI36 |
NG_007667.1:g.18009G>A , LRG_386:g.18009G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2024G>A MANE Select | ENSP00000442795.1:p.Gly675Glu | |
ENST00000256993.8:c.2024G>A | ENSP00000256993.5:p.Gly675Glu | |
ENST00000399249.6:c.2024G>A | ENSP00000382193.2:p.Gly675Glu | |
ENST00000544791.1:c.2024G>A | ENSP00000444259.1:p.Gly675Glu | |
ENST00000545968.5:c.2024G>A | ENSP00000442795.1:p.Gly675Glu | |
NM_000256.3:c.2024G>A , LRG_386t1:c.2024G>A MANE Select | NP_000247.2:p.Gly675Glu | |
XM_011520117.1:c.2006G>A | XP_011518419.1:p.Gly669Glu | |
XM_011520118.1:c.2024G>A | XP_011518420.1:p.Gly675Glu |