HGVS | Genome Assembly |
---|---|
NC_000023.11:g.134493511A>C , CM000685.2:g.134493511A>C | GRCh38 |
NC_000023.10:g.133627541A>C , CM000685.1:g.133627541A>C | GRCh37 |
NC_000023.9:g.133455207A>C | NCBI36 |
NG_012329.1:g.38367A>C | |
NG_012329.2:g.38367A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298556.8:c.406A>C MANE Select | ENSP00000298556.7:p.Ile136Leu | |
ENST00000298556.7:c.406A>C | ENSP00000298556.7:p.Ile136Leu | |
ENST00000462974.5:n.564A>C | ||
ENST00000475720.1:n.364A>C | ||
NM_000194.2:c.406A>C | NP_000185.1:p.Ile136Leu | |
XM_011531328.1:c.424A>C | XP_011529630.1:p.Ile142Leu | |
NM_000194.3:c.406A>C MANE Select | NP_000185.1:p.Ile136Leu |