HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31719143C>A , CM000668.2:g.31719143C>A | GRCh38 |
NC_000006.11:g.31686920C>A , CM000668.1:g.31686920C>A | GRCh37 |
NC_000006.10:g.31794899C>A | NCBI36 |
NG_029044.1:g.800C>A | |
NG_029044.2:g.800C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375819.3:c.331G>T (LY6G6C) MANE Select | ENSP00000364978.2:p.Val111Phe | |
ENST00000375819.2:c.331G>T (LY6G6C) | ENSP00000364978.2:p.Val111Phe | |
ENST00000460663.5:n.90+460C>A (MPIG6B) | ||
ENST00000495859.1:c.163G>T (LY6G6C) | ENSP00000433207.1:p.Val55Phe | |
NM_025261.2:c.331G>T (LY6G6C) | NP_079537.1:p.Val111Phe | |
NM_025261.3:c.331G>T (LY6G6C) MANE Select | NP_079537.1:p.Val111Phe |