HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40471293T>G , CM000677.2:g.40471293T>G | GRCh38 |
NC_000015.9:g.40763492T>G , CM000677.1:g.40763492T>G | GRCh37 |
NC_000015.8:g.38550784T>G | NCBI36 |
NG_017074.1:g.5333T>G , LRG_600:g.5333T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306243.7:c.80T>G MANE Select | ENSP00000307297.6:p.Leu27Arg | |
ENST00000306243.6:c.80T>G | ENSP00000307297.5:p.Leu27Arg | |
ENST00000559991.1:c.80T>G | ENSP00000453882.1:p.Leu27Arg | |
NM_130468.3:c.80T>G , LRG_600t1:c.80T>G | NP_569735.1:p.Leu27Arg | |
NM_130468.4:c.80T>G MANE Select | NP_569735.1:p.Leu27Arg |