HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110578798T>G , CM000672.2:g.110578798T>G | GRCh38 |
NC_000010.10:g.112338556T>G , CM000672.1:g.112338556T>G | GRCh37 |
NC_000010.9:g.112328546T>G | NCBI36 |
NG_012217.1:g.16108T>G , LRG_774:g.16108T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.562+92T>G | ||
ENST00000687823.1:n.343+92T>G | ||
ENST00000689932.1:n.2492+92T>G | ||
ENST00000691297.1:n.562+92T>G | ||
ENST00000691527.1:n.1232+92T>G | ||
ENST00000692792.1:n.548+92T>G | ||
ENST00000361804.5:c.429+92T>G MANE Select | ENSP00000354720.5:n.429+92T>G | |
ENST00000361804.4:c.429+92T>G | ENSP00000354720.4:n.429+92T>G | |
ENST00000462899.1:n.575+92T>G | ||
NM_005445.3:c.429+92T>G , LRG_774t1:c.429+92T>G | NP_005436.1:n.429+92T>G | |
NM_005445.4:c.429+92T>G MANE Select | NP_005436.1:n.429+92T>G |