HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40472336C>A , CM000677.2:g.40472336C>A | GRCh38 |
NC_000015.9:g.40764535C>A , CM000677.1:g.40764535C>A | GRCh37 |
NC_000015.8:g.38551827C>A | NCBI36 |
NG_017074.1:g.6376C>A , LRG_600:g.6376C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.1123C>A MANE Select | ENSP00000307297.6:p.Gln375Lys | |
ENST00000306243.6:c.1123C>A | ENSP00000307297.5:p.Gln375Lys | |
ENST00000559991.1:c.1048C>A | ENSP00000453882.1:p.Gln350Lys | |
NM_130468.3:c.1123C>A , LRG_600t1:c.1123C>A | NP_569735.1:p.Gln375Lys | |
NM_130468.4:c.1123C>A MANE Select | NP_569735.1:p.Gln375Lys |