HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868620A>G , CM000664.2:g.240868620A>G | GRCh38 |
NC_000002.11:g.241808037A>G , CM000664.1:g.241808037A>G | GRCh37 |
NC_000002.10:g.241456710A>G | NCBI36 |
NG_008005.1:g.4876A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.3:c.-246A>G | ENSP00000302620.3:n.-246A>G | |
XR_924060.1:n.405+1613T>C |