HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40472325A>G , CM000677.2:g.40472325A>G | GRCh38 |
NC_000015.9:g.40764524A>G , CM000677.1:g.40764524A>G | GRCh37 |
NC_000015.8:g.38551816A>G | NCBI36 |
NG_017074.1:g.6365A>G , LRG_600:g.6365A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.1112A>G MANE Select | ENSP00000307297.6:p.Lys371Arg | |
ENST00000306243.6:c.1112A>G | ENSP00000307297.5:p.Lys371Arg | |
ENST00000559991.1:c.1037A>G | ENSP00000453882.1:p.Lys346Arg | |
NM_130468.3:c.1112A>G , LRG_600t1:c.1112A>G | NP_569735.1:p.Lys371Arg | |
NM_130468.4:c.1112A>G MANE Select | NP_569735.1:p.Lys371Arg |