HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372417A>G , CM000679.2:g.44372417A>G | GRCh38 |
NC_000017.10:g.42449785A>G , CM000679.1:g.42449785A>G | GRCh37 |
NC_000017.9:g.39805311A>G | NCBI36 |
NG_008331.1:g.22089T>C , LRG_479:g.22089T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3067T>C MANE Select | ENSP00000262407.5:p.Phe1023Leu | |
ENST00000648408.1:c.2381T>C | ||
ENST00000262407.5:c.3067T>C | ENSP00000262407.5:p.Phe1023Leu | |
ENST00000587295.5:c.260T>C | ||
ENST00000588098.1:c.44T>C | ||
NM_000419.3:c.3067T>C , LRG_479t1:c.3067T>C | NP_000410.2:p.Phe1023Leu | |
XM_011524749.1:c.2965T>C | XP_011523051.1:p.Phe989Leu | |
XM_011524750.1:c.2950T>C | XP_011523052.1:p.Phe984Leu | |
NM_000419.4:c.3067T>C | NP_000410.2:p.Phe1023Leu | |
NM_000419.5:c.3067T>C MANE Select | NP_000410.2:p.Phe1023Leu |