HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372415G>A , CM000679.2:g.44372415G>A | GRCh38 |
NC_000017.10:g.42449783G>A , CM000679.1:g.42449783G>A | GRCh37 |
NC_000017.9:g.39805309G>A | NCBI36 |
NG_008331.1:g.22091C>T , LRG_479:g.22091C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.3069C>T MANE Select | ENSP00000262407.5:p.Phe1023= | |
ENST00000648408.1:c.2383C>T | ||
ENST00000262407.5:c.3069C>T | ENSP00000262407.5:p.Phe1023= | |
ENST00000587295.5:c.262C>T | ||
ENST00000588098.1:c.46C>T | ||
NM_000419.3:c.3069C>T , LRG_479t1:c.3069C>T | NP_000410.2:p.Phe1023= | |
XM_011524749.1:c.2967C>T | XP_011523051.1:p.Phe989= | |
XM_011524750.1:c.2952C>T | XP_011523052.1:p.Phe984= | |
NM_000419.4:c.3069C>T | NP_000410.2:p.Phe1023= | |
NM_000419.5:c.3069C>T MANE Select | NP_000410.2:p.Phe1023= |