HGVS | Genome Assembly |
---|---|
NC_000007.14:g.44189490G>T , CM000669.2:g.44189490G>T | GRCh38 |
NC_000007.13:g.44229089G>T , CM000669.1:g.44229089G>T | GRCh37 |
NC_000007.12:g.44195614G>T | NCBI36 |
NG_008847.1:g.4934C>A | |
NG_008847.2:g.13681C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476008.1:n.480+8201C>A |