HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102798500G>A , CM000673.2:g.102798500G>A | GRCh38 |
NC_000011.9:g.102669231G>A , CM000673.1:g.102669231G>A | GRCh37 |
NC_000011.8:g.102174441G>A | NCBI36 |
NG_011740.1:g.4736C>T | |
NG_011740.2:g.4736C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371455.7:n.423+378G>A | ||
ENST00000525739.6:n.682+378G>A | ||
ENST00000544704.1:n.443+378G>A | ||
NR_038390.1:n.682+378G>A |