HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102798471T>G , CM000673.2:g.102798471T>G | GRCh38 |
NC_000011.9:g.102669202T>G , CM000673.1:g.102669202T>G | GRCh37 |
NC_000011.8:g.102174412T>G | NCBI36 |
NG_011740.1:g.4765A>C | |
NG_011740.2:g.4765A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371455.7:n.423+349T>G | ||
ENST00000525739.6:n.682+349T>G | ||
ENST00000544704.1:n.443+349T>G | ||
NR_038390.1:n.682+349T>G |