HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112177G>C , CM000663.2:g.6112177G>C | GRCh38 |
NC_000001.10:g.6172237G>C , CM000663.1:g.6172237G>C | GRCh37 |
NC_000001.9:g.6094824G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262450.8:c.5103C>G MANE Select | ENSP00000262450.3:p.Phe1701Leu | |
ENST00000262450.7:c.5103C>G | ENSP00000262450.3:p.Phe1701Leu | |
ENST00000377999.5:c.2006C>G | ENSP00000367238.2:n.2006C>G | |
ENST00000462991.5:c.3356C>G | ||
ENST00000496404.1:c.3821C>G | ENSP00000433676.1:n.3821C>G | |
NM_015557.2:c.5103C>G | NP_056372.1:p.Phe1701Leu | |
NM_015557.3:c.5103C>G MANE Select | NP_056372.1:p.Phe1701Leu |