HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352746C>A , CM000671.2:g.133352746C>A | GRCh38 |
NC_000009.10:g.135209422C>A | NCBI36 |
NG_008477.1:g.8761G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.536G>T MANE Select | ENSP00000361042.3:p.Arg179Ile | |
ENST00000371974.7:c.536G>T | ENSP00000361042.3:p.Arg179Ile | |
ENST00000437995.1:n.462-16G>T | ||
ENST00000495952.5:n.526G>T | ||
ENST00000615505.4:c.209G>T | ENSP00000482067.1:p.Arg70Ile | |
NM_001280787.1:c.209G>T | NP_001267716.1:p.Arg70Ile | |
NM_003172.3:c.536G>T | NP_003163.1:p.Arg179Ile | |
XM_011518942.1:c.209G>T | XP_011517244.1:p.Arg70Ile | |
NM_003172.4:c.536G>T MANE Select | NP_003163.1:p.Arg179Ile |