HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893266A>G , CM000664.2:g.218893266A>G | GRCh38 |
NC_000002.11:g.219757988A>G , CM000664.1:g.219757988A>G | GRCh37 |
NC_000002.10:g.219466232A>G | NCBI36 |
NG_012179.1:g.17734A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.1249A>G MANE Select | ENSP00000258411.3:p.Lys417Glu | |
ENST00000258411.7:c.1249A>G | ENSP00000258411.3:p.Lys417Glu | |
ENST00000489887.1:n.46A>G | ||
NM_025216.2:c.1249A>G | NP_079492.2:p.Lys417Glu | |
XM_011511928.1:c.1198A>G | XP_011510230.1:p.Lys400Glu | |
XM_011511929.1:c.1153A>G | XP_011510231.1:p.Lys385Glu | |
XM_011511930.1:c.869A>G | XP_011510232.1:p.Gln290Arg | |
XM_011511929.2:c.1153A>G | XP_011510231.1:p.Lys385Glu | |
NM_025216.3:c.1249A>G MANE Select | NP_079492.2:p.Lys417Glu |