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