HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47342840G>C , CM000673.2:g.47342840G>C | GRCh38 |
NC_000011.9:g.47364391G>C , CM000673.1:g.47364391G>C | GRCh37 |
NC_000011.8:g.47320967G>C | NCBI36 |
NG_007667.1:g.14863C>G , LRG_386:g.14863C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.1447C>G MANE Select | ENSP00000442795.1:p.Gln483Glu | |
ENST00000256993.8:c.1447C>G | ENSP00000256993.5:p.Gln483Glu | |
ENST00000399249.6:c.1447C>G | ENSP00000382193.2:p.Gln483Glu | |
ENST00000544791.1:c.1447C>G | ENSP00000444259.1:p.Gln483Glu | |
ENST00000545968.5:c.1447C>G | ENSP00000442795.1:p.Gln483Glu | |
NM_000256.3:c.1447C>G , LRG_386t1:c.1447C>G MANE Select | NP_000247.2:p.Gln483Glu | |
XM_011520117.1:c.1429C>G | XP_011518419.1:p.Gln477Glu | |
XM_011520118.1:c.1447C>G | XP_011518420.1:p.Gln483Glu |