HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154187850A>C , CM000685.2:g.154187850A>C | GRCh38 |
NC_000023.10:g.153453339A>C , CM000685.1:g.153453339A>C | GRCh37 |
NG_011606.1:g.10255A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000595290.6:c.193A>C MANE Select | ENSP00000472316.1:p.Ile65Leu | |
ENST00000595290.5:c.193A>C | ENSP00000472316.1:p.Ile65Leu | |
ENST00000595330.1:n.203A>C | ||
NM_000513.2:c.193A>C MANE Select | NP_000504.1:p.Ile65Leu |