HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72189829T>C , CM000673.2:g.72189829T>C | GRCh38 |
NC_000011.9:g.71900873T>C , CM000673.1:g.71900873T>C | GRCh37 |
NC_000011.8:g.71578521T>C | NCBI36 |
NG_015863.1:g.5272T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312293.9:c.-9+70T>C | ENSP00000308137.4:n.-9+70T>C | |
ENST00000312293.8:c.-9+70T>C | ENSP00000308137.4:n.-9+70T>C | |
ENST00000393681.6:c.-75+70T>C | ENSP00000377286.2:n.-75+70T>C | |
NM_016724.2:c.-75+70T>C | NP_057936.1:n.-75+70T>C | |
NM_016725.2:c.-9+70T>C | NP_057937.1:n.-9+70T>C | |
NM_016724.3:c.-75+70T>C | NP_057936.1:n.-75+70T>C | |
NM_016725.3:c.-9+70T>C | NP_057937.1:n.-9+70T>C |