HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6778291A>T , CM000682.2:g.6778291A>T | GRCh38 |
NC_000020.10:g.6758938A>T , CM000682.1:g.6758938A>T | GRCh37 |
NC_000020.9:g.6706938A>T | NCBI36 |
NG_023233.1:g.15194A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378827.5:c.393A>T MANE Select | ENSP00000368104.3:p.Arg131Ser | |
ENST00000378827.4:c.393A>T | ENSP00000368104.3:p.Arg131Ser | |
NM_001200.2:c.393A>T | NP_001191.1:p.Arg131Ser | |
XM_011529323.1:c.-76A>T | XP_011527625.1:n.-76A>T | |
NM_001200.3:c.393A>T | NP_001191.1:p.Arg131Ser | |
NM_001200.4:c.393A>T MANE Select | NP_001191.1:p.Arg131Ser |