HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954123T>G , CM000670.2:g.19954123T>G | GRCh38 |
NC_000008.10:g.19811634T>G , CM000670.1:g.19811634T>G | GRCh37 |
NC_000008.9:g.19855914T>G | NCBI36 |
NG_008855.1:g.20053T>G | |
NG_008855.2:g.57407T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.545T>G MANE Select | ENSP00000497642.1:p.Leu182Arg | |
ENST00000311322.8:c.545T>G | ENSP00000309757.6:p.Leu182Arg | |
ENST00000520959.5:c.317T>G | ENSP00000428496.1:p.Leu106Arg | |
NM_000237.2:c.545T>G | NP_000228.1:p.Leu182Arg | |
NM_000237.3:c.545T>G MANE Select | NP_000228.1:p.Leu182Arg |