HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312650A>C , CM000673.2:g.118312650A>C | GRCh38 |
NC_000011.9:g.118183365A>C , CM000673.1:g.118183365A>C | GRCh37 |
NC_000011.8:g.117688575A>C | NCBI36 |
NG_007383.1:g.13071A>C , LRG_38:g.13071A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.136A>C MANE Select | ENSP00000354566.4:p.Ile46Leu | |
ENST00000361763.8:c.136A>C | ENSP00000354566.4:p.Ile46Leu | |
ENST00000526146.5:n.682A>C | ||
ENST00000528435.5:n.689A>C | ||
ENST00000528600.1:c.118A>C | ENSP00000433975.1:p.Ile40Leu | |
ENST00000529713.5:n.242A>C | ||
ENST00000531913.1:n.507A>C | ||
NM_000733.3:c.136A>C , LRG_38t1:c.136A>C | NP_000724.1:p.Ile46Leu | |
NM_000733.4:c.136A>C MANE Select | NP_000724.1:p.Ile46Leu |