HGVS | Genome Assembly |
---|---|
NC_000019.10:g.38930899G>A , CM000681.2:g.38930899G>A | GRCh38 |
NC_000019.9:g.39421539G>A , CM000681.1:g.39421539G>A | GRCh37 |
NC_000019.8:g.44113379G>A | NCBI36 |
NG_029222.1:g.5192G>A | |
NG_031865.1:g.4998C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308018.8:c.-119G>A | ENSP00000308845.3:n.-119G>A | |
ENST00000599996.1:c.476-4599C>T | ||
NM_033362.3:c.-119G>A | NP_203526.1:n.-119G>A |