HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193122012G>T , CM000663.2:g.193122012G>T | GRCh38 |
NC_000001.10:g.193091142G>T , CM000663.1:g.193091142G>T | GRCh37 |
NC_000001.9:g.191357765G>T | NCBI36 |
NG_012691.1:g.5055G>T , LRG_507:g.5055G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643006.1:c.-189G>T | ENSP00000496633.1:n.-189G>T | |
ENST00000649895.1:n.30G>T | ||
NM_024529.4:c.-189G>T , LRG_507t1:c.-189G>T | NP_078805.3:n.-189G>T | |
XR_001738350.1:n.1645C>A |