HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312738T>G , CM000673.2:g.118312738T>G | GRCh38 |
NC_000011.9:g.118183453T>G , CM000673.1:g.118183453T>G | GRCh37 |
NC_000011.8:g.117688663T>G | NCBI36 |
NG_007383.1:g.13159T>G , LRG_38:g.13159T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.224T>G MANE Select | ENSP00000354566.4:p.Ile75Arg | |
ENST00000361763.8:c.224T>G | ENSP00000354566.4:p.Ile75Arg | |
ENST00000526146.5:n.770T>G | ||
ENST00000528435.5:n.777T>G | ||
ENST00000528600.1:c.206T>G | ENSP00000433975.1:p.Ile69Arg | |
ENST00000529713.5:n.330T>G | ||
ENST00000531913.1:n.595T>G | ||
NM_000733.3:c.224T>G , LRG_38t1:c.224T>G | NP_000724.1:p.Ile75Arg | |
NM_000733.4:c.224T>G MANE Select | NP_000724.1:p.Ile75Arg |