HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21619141G>T , CM000669.2:g.21619141G>T | GRCh38 |
NC_000007.13:g.21658759G>T , CM000669.1:g.21658759G>T | GRCh37 |
NC_000007.12:g.21625284G>T | NCBI36 |
NG_012886.2:g.80927G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4296G>T MANE Select | ENSP00000475939.1:p.Leu1432Phe | |
ENST00000328843.10:c.4311G>T | ENSP00000330671.7:p.Leu1437Phe | |
ENST00000409508.7:c.4296G>T | ENSP00000475939.1:p.Leu1432Phe | |
ENST00000465593.1:n.322G>T | ||
ENST00000620169.4:c.4311G>T | ENSP00000481693.1:p.Leu1437Phe | |
NM_001277115.1:c.4296G>T | NP_001264044.1:p.Leu1432Phe | |
NM_001277115.2:c.4296G>T MANE Select | NP_001264044.1:p.Leu1432Phe |