HGVS | Genome Assembly |
---|---|
NC_000017.11:g.15999696A>G , CM000679.2:g.15999696A>G | GRCh38 |
NC_000017.10:g.15903010A>G , CM000679.1:g.15903010A>G | GRCh37 |
NC_000017.9:g.15843735A>G | NCBI36 |
NG_029806.1:g.5317A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399277.6:c.-102T>C (ZSWIM7) MANE Select | ENSP00000382218.1:n.-102T>C | |
ENST00000261647.9:c.-153A>G (TTC19) | ENSP00000261647.5:n.-153A>G | |
ENST00000491631.5:c.-102T>C (ZSWIM7) | ENSP00000462598.1:n.-102T>C | |
ENST00000497719.5:n.18T>C (ZSWIM7) | ||
NM_001271420.1:c.-611A>G (TTC19) | NP_001258349.1:n.-611A>G | |
NM_017775.3:c.-153A>G (TTC19) | NP_060245.3:n.-153A>G | |
NM_001042697.2:c.-102T>C (ZSWIM7) MANE Select | NP_001036162.1:n.-102T>C | |
NM_001042698.2:c.-102T>C (ZSWIM7) | NP_001036163.1:n.-102T>C |