HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193122029T>A , CM000663.2:g.193122029T>A | GRCh38 |
NC_000001.10:g.193091159T>A , CM000663.1:g.193091159T>A | GRCh37 |
NC_000001.9:g.191357782T>A | NCBI36 |
NG_012691.1:g.5072T>A , LRG_507:g.5072T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643006.1:c.-172T>A | ENSP00000496633.1:n.-172T>A | |
ENST00000649895.1:n.47T>A | ||
ENST00000367435.3:c.-172T>A | ENSP00000356405.3:n.-172T>A | |
NM_024529.4:c.-172T>A , LRG_507t1:c.-172T>A | NP_078805.3:n.-172T>A | |
XR_001738350.1:n.1628A>T |