HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022655G>T , CM000663.2:g.17022655G>T | GRCh38 |
NC_000001.10:g.17349150G>T , CM000663.1:g.17349150G>T | GRCh37 |
NC_000001.9:g.17221737G>T | NCBI36 |
NG_012340.1:g.36516C>A , LRG_316:g.36516C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.547C>A | ENSP00000481376.2:p.Leu183Ile | |
ENST00000491274.6:c.676C>A | ENSP00000480482.2:p.Leu226Ile | |
ENST00000375499.8:c.718C>A MANE Select | ENSP00000364649.3:p.Leu240Ile | |
ENST00000375499.7:c.718C>A | ENSP00000364649.3:p.Leu240Ile | |
ENST00000475049.5:n.143C>A | ||
ENST00000485092.5:n.382C>A | ||
ENST00000485515.5:n.652C>A | ||
NM_003000.2:c.718C>A , LRG_316t1:c.718C>A | NP_002991.2:p.Leu240Ile | |
NM_003000.3:c.718C>A MANE Select | NP_002991.2:p.Leu240Ile |