HGVS | Genome Assembly |
---|---|
NC_000002.12:g.201287789A>G , CM000664.2:g.201287789A>G | GRCh38 |
NC_000002.11:g.202152512A>G , CM000664.1:g.202152512A>G | GRCh37 |
NC_000002.10:g.201860757A>G | NCBI36 |
NG_007497.1:g.59332A>G , LRG_34:g.59332A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696069.1:c.1259+2472A>G | ENSP00000512371.1:n.1259+2472A>G |