HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31719138G>C , CM000668.2:g.31719138G>C | GRCh38 |
NC_000006.11:g.31686915G>C , CM000668.1:g.31686915G>C | GRCh37 |
NC_000006.10:g.31794894G>C | NCBI36 |
NG_029044.1:g.795G>C | |
NG_029044.2:g.795G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375819.3:c.336C>G (LY6G6C) MANE Select | ENSP00000364978.2:p.Phe112Leu | |
ENST00000375819.2:c.336C>G (LY6G6C) | ENSP00000364978.2:p.Phe112Leu | |
ENST00000460663.5:n.90+455G>C (MPIG6B) | ||
ENST00000495859.1:c.168C>G (LY6G6C) | ENSP00000433207.1:p.Phe56Leu | |
NM_025261.2:c.336C>G (LY6G6C) | NP_079537.1:p.Phe112Leu | |
NM_025261.3:c.336C>G (LY6G6C) MANE Select | NP_079537.1:p.Phe112Leu |