HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44651912G>T , CM000682.2:g.44651912G>T | GRCh38 |
NC_000020.10:g.43280553G>T , CM000682.1:g.43280553G>T | GRCh37 |
NC_000020.9:g.42713967G>T | NCBI36 |
NG_007385.1:g.4824C>A , LRG_16:g.4824C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000536076.2:c.-131C>A | ENSP00000512234.1:n.-131C>A | |
ENST00000696039.1:n.311C>A | ||
ENST00000696062.1:c.96+188C>A | ENSP00000512365.1:n.96+188C>A | |
ENST00000696064.1:c.-128C>A | ENSP00000512367.1:n.-128C>A | |
ENST00000696065.1:c.-131C>A | ENSP00000512368.1:n.-131C>A | |
ENST00000535573.1:n.322C>A | ||
ENST00000536076.1:n.203C>A | ||
XM_011528479.1:c.-267C>A | XP_011526781.1:n.-267C>A |