HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843267C= , CM000676.2:g.22843267C= | GRCh38 |
NC_000014.8:g.23312476C= , CM000676.1:g.23312476C= | GRCh37 |
NC_000014.7:g.22382316C= | NCBI36 |
NG_046989.1:g.11735C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.699C= MANE Select | ENSP00000308208.6:p.Ile233= | |
ENST00000548162.2:c.699C= | ENSP00000506068.1:p.Ile233= | |
ENST00000680097.1:c.*14C= | ENSP00000506631.1:n.*14C= | |
ENST00000680941.1:c.*97C= | ENSP00000506378.1:n.*97C= | |
ENST00000311852.10:c.699C= | ENSP00000308208.6:p.Ile233= | |
ENST00000548162.1:n.941C= | ||
NM_004995.3:c.699C= | NP_004986.1:p.Ile233= | |
NM_004995.4:c.699C= MANE Select | NP_004986.1:p.Ile233= |