HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893170C>A , CM000664.2:g.218893170C>A | GRCh38 |
NC_000002.11:g.219757892C>A , CM000664.1:g.219757892C>A | GRCh37 |
NC_000002.10:g.219466136C>A | NCBI36 |
NG_012179.1:g.17638C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.1153C>A MANE Select | ENSP00000258411.3:p.Arg385Ser | |
ENST00000258411.7:c.1153C>A | ENSP00000258411.3:p.Arg385Ser | |
NM_025216.2:c.1153C>A | NP_079492.2:p.Arg385Ser | |
XM_011511928.1:c.1102C>A | XP_011510230.1:p.Arg368Ser | |
XM_011511929.1:c.1057C>A | XP_011510231.1:p.Arg353Ser | |
XM_011511930.1:c.773C>A | XP_011510232.1:p.Ala258Glu | |
XM_011511929.2:c.1057C>A | XP_011510231.1:p.Arg353Ser | |
NM_025216.3:c.1153C>A MANE Select | NP_079492.2:p.Arg385Ser |