HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218890267C>A , CM000664.2:g.218890267C>A | GRCh38 |
NC_000002.11:g.219754989C>A , CM000664.1:g.219754989C>A | GRCh37 |
NC_000002.10:g.219463233C>A | NCBI36 |
NG_012179.1:g.14735C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.660C>A MANE Select | ENSP00000258411.3:p.Phe220Leu | |
ENST00000258411.7:c.660C>A | ENSP00000258411.3:p.Phe220Leu | |
ENST00000458582.1:c.264-2507C>A | ||
NM_025216.2:c.660C>A | NP_079492.2:p.Phe220Leu | |
XM_011511928.1:c.609C>A | XP_011510230.1:p.Phe203Leu | |
XM_011511929.1:c.564C>A | XP_011510231.1:p.Phe188Leu | |
XM_011511930.1:c.377-2507C>A | XP_011510232.1:n.377-2507C>A | |
XM_011511929.2:c.564C>A | XP_011510231.1:p.Phe188Leu | |
NM_025216.3:c.660C>A MANE Select | NP_079492.2:p.Phe220Leu |