HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951866G>T , CM000670.2:g.19951866G>T | GRCh38 |
NC_000008.10:g.19809377G>T , CM000670.1:g.19809377G>T | GRCh37 |
NC_000008.9:g.19853657G>T | NCBI36 |
NG_008855.1:g.17796G>T | |
NG_008855.2:g.55150G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.347G>T MANE Select | ENSP00000497642.1:p.Arg116Leu | |
ENST00000311322.8:c.347G>T | ENSP00000309757.6:p.Arg116Leu | |
ENST00000520959.5:c.119G>T | ENSP00000428496.1:p.Arg40Leu | |
ENST00000524029.5:c.347G>T | ENSP00000428237.1:p.Arg116Leu | |
NM_000237.2:c.347G>T | NP_000228.1:p.Arg116Leu | |
NM_000237.3:c.347G>T MANE Select | NP_000228.1:p.Arg116Leu |