HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997013A>T , CM000685.2:g.154997013A>T | GRCh38 |
NC_000023.10:g.154225288A>T , CM000685.1:g.154225288A>T | GRCh37 |
NC_000023.9:g.153878482A>T | NCBI36 |
NG_011403.1:g.30711T>A | |
NG_011403.2:g.30711T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.348T>A MANE Select | ENSP00000353393.4:p.Ser116Arg | |
ENST00000647125.1:c.*134T>A | ENSP00000496062.1:n.*134T>A | |
ENST00000360256.8:c.348T>A | ENSP00000353393.4:p.Ser116Arg | |
ENST00000423959.5:c.243T>A | ENSP00000409446.1:p.Ser81Arg | |
ENST00000453950.1:c.330T>A | ENSP00000389153.1:p.Ser110Arg | |
NM_000132.3:c.348T>A | NP_000123.1:p.Ser116Arg | |
XM_011531126.1:c.243T>A | XP_011529428.1:p.Ser81Arg | |
NM_000132.4:c.348T>A MANE Select | NP_000123.1:p.Ser116Arg |