HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868537T>G , CM000664.2:g.240868537T>G | GRCh38 |
NC_000002.11:g.241807954T>G , CM000664.1:g.241807954T>G | GRCh37 |
NC_000002.10:g.241456627T>G | NCBI36 |
NG_008005.1:g.4793T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.3:c.-329T>G | ENSP00000302620.3:n.-329T>G | |
XR_924060.1:n.405+1696A>C |