HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582447T>C , CM000673.2:g.47582447T>C | GRCh38 |
NC_000011.9:g.47603999T>C , CM000673.1:g.47603999T>C | GRCh37 |
NC_000011.8:g.47560575T>C | NCBI36 |
NG_011946.1:g.8438T>C | |
NG_011946.2:g.8438T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.606T>C MANE Select | ENSP00000263774.4:p.Phe202= | |
ENST00000531351.2:n.1801T>C | ||
ENST00000677462.1:n.3080T>C | ||
ENST00000678975.1:n.2863T>C | ||
ENST00000263774.8:c.606T>C | ENSP00000263774.4:p.Phe202= | |
ENST00000524568.1:n.709T>C | ||
ENST00000525212.1:n.261T>C | ||
ENST00000525378.5:n.544T>C | ||
ENST00000527178.1:n.206T>C | ||
ENST00000533507.5:n.1500T>C | ||
NM_004551.2:c.606T>C | NP_004542.1:p.Phe202= | |
NM_004551.3:c.606T>C MANE Select | NP_004542.1:p.Phe202= |