HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076334A>C , CM000679.2:g.8076334A>C | GRCh38 |
NC_000017.10:g.7979652A>C , CM000679.1:g.7979652A>C | GRCh37 |
NC_000017.9:g.7920377A>C | NCBI36 |
NG_007099.1:g.16370T>G | |
NG_007099.2:g.16383T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647874.1:c.1373T>G MANE Select | ENSP00000497784.1:p.Leu458Arg | |
ENST00000649809.1:c.437T>G | ENSP00000496845.1:p.Leu146Arg | |
ENST00000319144.4:c.1373T>G | ENSP00000315167.4:p.Leu458Arg | |
ENST00000577351.5:n.320T>G | ||
ENST00000583276.5:n.757T>G | ||
ENST00000584116.1:n.629T>G | ||
NM_001139.2:c.1373T>G | NP_001130.1:p.Leu458Arg | |
NM_001139.3:c.1373T>G MANE Select | NP_001130.1:p.Leu458Arg |