HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022653T= , CM000663.2:g.17022653T= | GRCh38 |
NC_000001.10:g.17349148T= , CM000663.1:g.17349148T= | GRCh37 |
NC_000001.9:g.17221735T= | NCBI36 |
NG_012340.1:g.36518A= , LRG_316:g.36518A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.549A= | ENSP00000481376.2:p.Leu183= | |
ENST00000491274.6:c.678A= | ENSP00000480482.2:p.Leu226= | |
ENST00000375499.8:c.720A= MANE Select | ENSP00000364649.3:p.Leu240= | |
ENST00000375499.7:c.720A= | ENSP00000364649.3:p.Leu240= | |
ENST00000475049.5:n.145A= | ||
ENST00000485092.5:n.384A= | ||
ENST00000485515.5:n.654A= | ||
NM_003000.2:c.720A= , LRG_316t1:c.720A= | NP_002991.2:p.Leu240= | |
NM_003000.3:c.720A= MANE Select | NP_002991.2:p.Leu240= |