HGVS | Genome Assembly |
---|---|
NC_000019.10:g.11089365T>C , CM000681.2:g.11089365T>C | GRCh38 |
NC_000019.9:g.11200041T>C , CM000681.1:g.11200041T>C | GRCh37 |
NC_000019.8:g.11061041T>C | NCBI36 |
NG_009060.1:g.4985T>C , LRG_274:g.4985T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558518.5:c.-184T>C (LDLR) | ENSP00000454071.1:n.-184T>C | |
NM_000527.4:c.-184T>C , LRG_274t1:c.-184T>C (LDLR) | NP_000518.1:n.-184T>C | |
NM_001195798.1:c.-184T>C (LDLR) | NP_001182727.1:n.-184T>C | |
NM_001195799.1:c.-184T>C (LDLR) | NP_001182728.1:n.-184T>C | |
NM_001195800.1:c.-184T>C (LDLR) | NP_001182729.1:n.-184T>C | |
NM_001195803.1:c.-184T>C (LDLR) | NP_001182732.1:n.-184T>C | |
NR_163945.1:n.295A>G (LDLR-AS1) |