HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868733G>A , CM000664.2:g.240868733G>A | GRCh38 |
NC_000002.11:g.241808150G>A , CM000664.1:g.241808150G>A | GRCh37 |
NC_000002.10:g.241456823G>A | NCBI36 |
NG_008005.1:g.4989G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.3:c.-133G>A | ENSP00000302620.3:n.-133G>A | |
XR_924060.1:n.405+1500C>T |