HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44960549A>C , CM000679.2:g.44960549A>C | GRCh38 |
NC_000017.10:g.43037917A>C , CM000679.1:g.43037917A>C | GRCh37 |
NC_000017.9:g.40393443A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253407.4:c.598-182T>G (C1QL1) MANE Select | ENSP00000253407.2:n.598-182T>G | |
ENST00000678938.1:c.-110+2487A>C (NMT1) | ENSP00000503621.1:n.-110+2487A>C | |
ENST00000253407.3:c.598-182T>G (C1QL1) | ENSP00000253407.2:n.598-182T>G | |
NM_006688.4:c.598-182T>G (C1QL1) | NP_006679.1:n.598-182T>G | |
NM_006688.5:c.598-182T>G (C1QL1) MANE Select | NP_006679.1:n.598-182T>G |