HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193122017C>A , CM000663.2:g.193122017C>A | GRCh38 |
NC_000001.10:g.193091147C>A , CM000663.1:g.193091147C>A | GRCh37 |
NC_000001.9:g.191357770C>A | NCBI36 |
NG_012691.1:g.5060C>A , LRG_507:g.5060C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643006.1:c.-184C>A | ENSP00000496633.1:n.-184C>A | |
ENST00000649895.1:n.35C>A | ||
ENST00000367435.3:c.-184C>A | ENSP00000356405.3:n.-184C>A | |
NM_024529.4:c.-184C>A , LRG_507t1:c.-184C>A | NP_078805.3:n.-184C>A | |
XR_001738350.1:n.1640G>T |