HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132656953C= , CM000667.2:g.132656953C= | GRCh38 |
NC_000005.9:g.131992645C= , CM000667.1:g.131992645C= | GRCh37 |
NC_000005.8:g.132020544C= | NCBI36 |
NG_012090.1:g.3781C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000459878.5:n.107+323C= | ||
ENST00000468334.5:n.369-113C= | ||
ENST00000487267.5:n.96-113C= | ||
NM_001354991.1:c.-93+323C= | NP_001341920.1:n.-93+323C= | |
NM_001354992.1:c.-271-113C= | NP_001341921.1:n.-271-113C= | |
NM_001354993.1:c.-200-113C= | NP_001341922.1:n.-200-113C= | |
NM_001354991.2:c.-93+323C= | NP_001341920.1:n.-93+323C= | |
NM_001354992.2:c.-271-113C= | NP_001341921.1:n.-271-113C= | |
NM_001354993.2:c.-200-113C= | NP_001341922.1:n.-200-113C= |