HGVS | Genome Assembly |
---|---|
NC_000019.10:g.38930898T>G , CM000681.2:g.38930898T>G | GRCh38 |
NC_000019.9:g.39421538T>G , CM000681.1:g.39421538T>G | GRCh37 |
NC_000019.8:g.44113378T>G | NCBI36 |
NG_029222.1:g.5191T>G | |
NG_031865.1:g.4999A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308018.8:c.-120T>G | ENSP00000308845.3:n.-120T>G | |
ENST00000599996.1:c.476-4598A>C | ||
NM_033362.3:c.-120T>G | NP_203526.1:n.-120T>G |