HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271336A>C , CM000668.2:g.31271336A>C | GRCh38 |
NC_000006.11:g.31239113A>C , CM000668.1:g.31239113A>C | GRCh37 |
NC_000006.10:g.31347092A>C | NCBI36 |
NG_029422.2:g.5796T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.356T>G MANE Select | ENSP00000365402.5:p.Leu119Arg | |
ENST00000376228.9:c.356T>G | ENSP00000365402.5:p.Leu119Arg | |
ENST00000376237.8:c.344-5T>G | ENSP00000365412.4:n.344-5T>G | |
ENST00000383329.7:c.356T>G | ENSP00000372819.3:p.Leu119Arg | |
ENST00000415537.1:c.354T>G | ||
ENST00000484378.1:n.625T>G | ||
ENST00000487245.5:n.715T>G | ||
ENST00000495835.1:n.545T>G | ||
NM_002117.5:c.356T>G | NP_002108.4:p.Leu119Arg | |
NM_002117.6:c.356T>G MANE Select | NP_002108.4:p.Leu119Arg |