HGVS | Genome Assembly |
---|---|
NC_000007.14:g.44196069G>C , CM000669.2:g.44196069G>C | GRCh38 |
NC_000007.13:g.44235668G>C , CM000669.1:g.44235668G>C | GRCh37 |
NC_000007.12:g.44202193G>C | NCBI36 |
NG_008847.2:g.7102C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476008.1:n.480+1622C>G |