HGVS | Genome Assembly |
---|---|
NC_000019.10:g.38930901C>T , CM000681.2:g.38930901C>T | GRCh38 |
NC_000019.9:g.39421541C>T , CM000681.1:g.39421541C>T | GRCh37 |
NC_000019.8:g.44113381C>T | NCBI36 |
NG_029222.1:g.5194C>T | |
NG_031865.1:g.4996G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308018.8:c.-117C>T | ENSP00000308845.3:n.-117C>T | |
ENST00000599996.1:c.476-4601G>A | ||
NM_033362.3:c.-117C>T | NP_203526.1:n.-117C>T |