HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47349962T>G , CM000672.2:g.47349962T>G | GRCh38 |
NC_000010.10:g.48389400A>C , CM000672.1:g.48389400A>C | GRCh37 |
NC_000010.9:g.48009406A>C | NCBI36 |
NG_029718.1:g.6592T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1478T>G MANE Select | ENSP00000463151.1:p.Leu493Arg | |
ENST00000584701.1:c.1478T>G | ENSP00000463151.1:p.Leu493Arg | |
NM_002900.2:c.1478T>G | NP_002891.1:p.Leu493Arg | |
NM_002900.3:c.1478T>G MANE Select | NP_002891.1:p.Leu493Arg |