HGVS | Genome Assembly |
---|---|
NC_000002.12:g.201287853T>C , CM000664.2:g.201287853T>C | GRCh38 |
NC_000002.11:g.202152576T>C , CM000664.1:g.202152576T>C | GRCh37 |
NC_000002.10:g.201860821T>C | NCBI36 |
NG_007497.1:g.59396T>C , LRG_34:g.59396T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696069.1:c.1259+2536T>C | ENSP00000512371.1:n.1259+2536T>C |