HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44960563T>A , CM000679.2:g.44960563T>A | GRCh38 |
NC_000017.10:g.43037931T>A , CM000679.1:g.43037931T>A | GRCh37 |
NC_000017.9:g.40393457T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253407.4:c.598-196A>T (C1QL1) MANE Select | ENSP00000253407.2:n.598-196A>T | |
ENST00000678938.1:c.-110+2501T>A (NMT1) | ENSP00000503621.1:n.-110+2501T>A | |
ENST00000253407.3:c.598-196A>T (C1QL1) | ENSP00000253407.2:n.598-196A>T | |
NM_006688.4:c.598-196A>T (C1QL1) | NP_006679.1:n.598-196A>T | |
NM_006688.5:c.598-196A>T (C1QL1) MANE Select | NP_006679.1:n.598-196A>T |