HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72189980C>T , CM000673.2:g.72189980C>T | GRCh38 |
NC_000011.9:g.71901024C>T , CM000673.1:g.71901024C>T | GRCh37 |
NC_000011.8:g.71578672C>T | NCBI36 |
NG_015863.1:g.5423C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312293.9:c.-9+221C>T | ENSP00000308137.4:n.-9+221C>T | |
ENST00000675784.1:c.-9+49C>T | ENSP00000502440.1:n.-9+49C>T | |
ENST00000312293.8:c.-9+221C>T | ENSP00000308137.4:n.-9+221C>T | |
ENST00000393681.6:c.-75+221C>T | ENSP00000377286.2:n.-75+221C>T | |
NM_000802.3:c.-9+49C>T | NP_000793.1:n.-9+49C>T | |
NM_016724.2:c.-75+221C>T | NP_057936.1:n.-75+221C>T | |
NM_016725.2:c.-9+221C>T | NP_057937.1:n.-9+221C>T | |
NM_016724.3:c.-75+221C>T | NP_057936.1:n.-75+221C>T | |
NM_016725.3:c.-9+221C>T | NP_057937.1:n.-9+221C>T |