HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203866203T>C , CM000664.2:g.203866203T>C | GRCh38 |
NC_000002.11:g.204730926T>C , CM000664.1:g.204730926T>C | GRCh37 |
NC_000002.10:g.204439171T>C | NCBI36 |
NG_011502.1:g.3418T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696479.1:c.48-1715T>C | ENSP00000512655.1:n.48-1715T>C |