HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203866425T>G , CM000664.2:g.203866425T>G | GRCh38 |
NC_000002.11:g.204731148T>G , CM000664.1:g.204731148T>G | GRCh37 |
NC_000002.10:g.204439393T>G | NCBI36 |
NG_011502.1:g.3640T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696479.1:c.48-1493T>G | ENSP00000512655.1:n.48-1493T>G |