HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117837181A>C , CM000670.2:g.117837181A>C | GRCh38 |
NC_000008.10:g.118849420A>C , CM000670.1:g.118849420A>C | GRCh37 |
NC_000008.9:g.118918601A>C | NCBI36 |
NG_007455.2:g.279639T>G , LRG_493:g.279639T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.450T>G | ||
ENST00000378204.7:c.983T>G MANE Select | ENSP00000367446.3:p.Leu328Arg | |
ENST00000436216.2:c.351T>G | ||
ENST00000378204.6:c.983T>G | ENSP00000367446.2:p.Leu328Arg | |
ENST00000436216.1:c.351T>G | ||
ENST00000437196.1:c.74-1630T>G | ENSP00000407299.1:n.74-1630T>G | |
NM_000127.2:c.983T>G , LRG_493t1:c.983T>G | NP_000118.2:p.Leu328Arg | |
NM_000127.3:c.983T>G MANE Select | NP_000118.2:p.Leu328Arg |