HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445012G>T , CM000673.2:g.2445012G>T | GRCh38 |
NC_000011.9:g.2466242G>T , CM000673.1:g.2466242G>T | GRCh37 |
NC_000011.8:g.2422818G>T | NCBI36 |
NG_008935.1:g.5022G>T , LRG_287:g.5022G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.23+304G>T | ENSP00000434560.2:n.23+304G>T | |
ENST00000646564.2:c.-87G>T | ENSP00000495806.2:n.-87G>T | |
ENST00000155840.12:c.-87G>T MANE Select | ENSP00000155840.2:n.-87G>T | |
ENST00000155840.9:c.-87G>T | ENSP00000155840.2:n.-87G>T | |
ENST00000496887.6:c.23+304G>T | ENSP00000434560.1:n.23+304G>T | |
NM_000218.2:c.-87G>T , LRG_287t1:c.-87G>T | NP_000209.2:n.-87G>T | |
NM_000218.3:c.-87G>T MANE Select | NP_000209.2:n.-87G>T |