HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041908A>C , CM000674.2:g.56041908A>C | GRCh38 |
NC_000012.11:g.56435692A>C , CM000674.1:g.56435692A>C | GRCh37 |
NC_000012.10:g.54721959A>C | NCBI36 |
NG_023201.1:g.5007A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-259A>C | ENSP00000348849.5:n.-259A>C | |
ENST00000356464.9:c.-259A>C | ENSP00000348849.5:n.-259A>C | |
ENST00000552361.1:c.-191A>C | ENSP00000450339.1:n.-191A>C | |
NM_001029.3:c.-259A>C | NP_001020.2:n.-259A>C | |
XR_944989.3:n.96T>G | ||
XR_944990.3:n.96T>G |