HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73610828A>G , CM000664.2:g.73610828A>G | GRCh38 |
NC_000002.11:g.73837955A>G , CM000664.1:g.73837955A>G | GRCh37 |
NC_000002.10:g.73691463A>G | NCBI36 |
NG_011690.1:g.230076A>G , LRG_741:g.230076A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651434.1:c.3933+1146A>G |