HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312710A>G , CM000673.2:g.118312710A>G | GRCh38 |
NC_000011.9:g.118183425A>G , CM000673.1:g.118183425A>G | GRCh37 |
NC_000011.8:g.117688635A>G | NCBI36 |
NG_007383.1:g.13131A>G , LRG_38:g.13131A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.196A>G MANE Select | ENSP00000354566.4:p.Ile66Val | |
ENST00000361763.8:c.196A>G | ENSP00000354566.4:p.Ile66Val | |
ENST00000526146.5:n.742A>G | ||
ENST00000528435.5:n.749A>G | ||
ENST00000528600.1:c.178A>G | ENSP00000433975.1:p.Ile60Val | |
ENST00000529713.5:n.302A>G | ||
ENST00000531913.1:n.567A>G | ||
NM_000733.3:c.196A>G , LRG_38t1:c.196A>G | NP_000724.1:p.Ile66Val | |
NM_000733.4:c.196A>G MANE Select | NP_000724.1:p.Ile66Val |