HGVS | Genome Assembly |
---|---|
NC_000002.12:g.201287770G>T , CM000664.2:g.201287770G>T | GRCh38 |
NC_000002.11:g.202152493G>T , CM000664.1:g.202152493G>T | GRCh37 |
NC_000002.10:g.201860738G>T | NCBI36 |
NG_007497.1:g.59313G>T , LRG_34:g.59313G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696069.1:c.1259+2453G>T | ENSP00000512371.1:n.1259+2453G>T |