HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2585269T>C , CM000673.2:g.2585269T>C | GRCh38 |
NC_000011.9:g.2606499T>C , CM000673.1:g.2606499T>C | GRCh37 |
NC_000011.8:g.2563075T>C | NCBI36 |
NG_008935.1:g.145279T>C , LRG_287:g.145279T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.771+1724T>C | ENSP00000434560.2:n.771+1724T>C | |
ENST00000646564.2:c.588+1724T>C | ENSP00000495806.2:n.588+1724T>C | |
ENST00000155840.12:c.1090T>C MANE Select | ENSP00000155840.2:p.Phe364Leu | |
ENST00000335475.6:c.709T>C | ENSP00000334497.5:p.Phe237Leu | |
ENST00000646564.1:c.234+1724T>C | ENSP00000495806.1:n.234+1724T>C | |
ENST00000155840.9:c.1090T>C | ENSP00000155840.2:p.Phe364Leu | |
ENST00000335475.5:c.709T>C | ENSP00000334497.5:p.Phe237Leu | |
NM_000218.2:c.1090T>C , LRG_287t1:c.1090T>C | NP_000209.2:p.Phe364Leu | |
NM_181798.1:c.709T>C , LRG_287t2:c.709T>C | NP_861463.1:p.Phe237Leu | |
NM_000218.3:c.1090T>C MANE Select | NP_000209.2:p.Phe364Leu |