HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445029C>G , CM000673.2:g.2445029C>G | GRCh38 |
NC_000011.9:g.2466259C>G , CM000673.1:g.2466259C>G | GRCh37 |
NC_000011.8:g.2422835C>G | NCBI36 |
NG_008935.1:g.5039C>G , LRG_287:g.5039C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.23+321C>G | ENSP00000434560.2:n.23+321C>G | |
ENST00000646564.2:c.-70C>G | ENSP00000495806.2:n.-70C>G | |
ENST00000155840.12:c.-70C>G MANE Select | ENSP00000155840.2:n.-70C>G | |
ENST00000155840.9:c.-70C>G | ENSP00000155840.2:n.-70C>G | |
ENST00000496887.6:c.23+321C>G | ENSP00000434560.1:n.23+321C>G | |
NM_000218.2:c.-70C>G , LRG_287t1:c.-70C>G | NP_000209.2:n.-70C>G | |
NM_000218.3:c.-70C>G MANE Select | NP_000209.2:n.-70C>G |