HGVS | Genome Assembly |
---|---|
NC_000016.10:g.68737291C>A , CM000678.2:g.68737291C>A | GRCh38 |
NC_000016.9:g.68771194C>A , CM000678.1:g.68771194C>A | GRCh37 |
NC_000016.8:g.67328695C>A | NCBI36 |
NG_008021.1:g.5000C>A , LRG_301:g.5000C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261769.9:c.-125C>A | ENSP00000261769.4:n.-125C>A | |
NM_001317184.1:c.-125C>A | NP_001304113.1:n.-125C>A | |
NM_001317185.1:c.-1740C>A | NP_001304114.1:n.-1740C>A | |
NM_001317186.1:c.-1944C>A | NP_001304115.1:n.-1944C>A | |
NM_004360.4:c.-125C>A | NP_004351.1:n.-125C>A |