HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651904G>A , CM000682.2:g.44651904G>A | GRCh38 |
NC_000020.10:g.43280545G>A , CM000682.1:g.43280545G>A | GRCh37 |
NC_000020.9:g.42713959G>A | NCBI36 |
NG_007385.1:g.4832C>T , LRG_16:g.4832C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-123C>T | ENSP00000512234.1:n.-123C>T | |
ENST00000696039.1:n.319C>T | ||
ENST00000696062.1:c.96+196C>T | ENSP00000512365.1:n.96+196C>T | |
ENST00000696064.1:c.-120C>T | ENSP00000512367.1:n.-120C>T | |
ENST00000696065.1:c.-123C>T | ENSP00000512368.1:n.-123C>T | |
ENST00000535573.1:n.330C>T | ||
ENST00000536076.1:n.211C>T | ||
XM_011528479.1:c.-259C>T | XP_011526781.1:n.-259C>T |