HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48367521G>A , CM000675.2:g.48367521G>A | GRCh38 |
NC_000013.10:g.48941657G>A , CM000675.1:g.48941657G>A | GRCh37 |
NC_000013.9:g.47839658G>A | NCBI36 |
NG_009009.1:g.68775G>A , LRG_517:g.68775G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.967G>A MANE Select | ENSP00000267163.4:p.Glu323Lys | |
ENST00000650461.1:c.967G>A | ENSP00000497193.1:p.Glu323Lys | |
ENST00000267163.4:c.967G>A | ENSP00000267163.4:p.Glu323Lys | |
NM_000321.2:c.967G>A , LRG_517t1:c.967G>A | NP_000312.2:p.Glu323Lys | |
XM_011535171.1:c.706G>A | XP_011533473.1:p.Glu236Lys | |
XM_011535171.2:c.706G>A | XP_011533473.1:p.Glu236Lys | |
XR_002957522.1:n.122-2545C>T | ||
NM_000321.3:c.967G>A MANE Select | NP_000312.2:p.Glu323Lys |