HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102798428T>C , CM000673.2:g.102798428T>C | GRCh38 |
NC_000011.9:g.102669159T>C , CM000673.1:g.102669159T>C | GRCh37 |
NC_000011.8:g.102174369T>C | NCBI36 |
NG_011740.1:g.4808A>G | |
NG_011740.2:g.4808A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371455.7:n.423+306T>C | ||
ENST00000525739.6:n.682+306T>C | ||
ENST00000544704.1:n.443+306T>C | ||
NR_038390.1:n.682+306T>C |