HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445437C>T , CM000673.2:g.2445437C>T | GRCh38 |
NC_000011.9:g.2466667C>T , CM000673.1:g.2466667C>T | GRCh37 |
NC_000011.8:g.2423243C>T | NCBI36 |
NG_008935.1:g.5447C>T , LRG_287:g.5447C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.78C>T | ENSP00000434560.2:p.Phe26= | |
ENST00000646564.2:c.339C>T | ENSP00000495806.2:p.Phe113= | |
ENST00000155840.12:c.339C>T MANE Select | ENSP00000155840.2:p.Phe113= | |
ENST00000155840.9:c.339C>T | ENSP00000155840.2:p.Phe113= | |
ENST00000345015.4:n.116C>T | ||
ENST00000496887.6:c.78C>T | ENSP00000434560.1:p.Phe26= | |
NM_000218.2:c.339C>T , LRG_287t1:c.339C>T | NP_000209.2:p.Phe113= | |
NM_000218.3:c.339C>T MANE Select | NP_000209.2:p.Phe113= |