HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112175T>C , CM000663.2:g.6112175T>C | GRCh38 |
NC_000001.10:g.6172235T>C , CM000663.1:g.6172235T>C | GRCh37 |
NC_000001.9:g.6094822T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262450.8:c.5105A>G MANE Select | ENSP00000262450.3:p.Lys1702Arg | |
ENST00000262450.7:c.5105A>G | ENSP00000262450.3:p.Lys1702Arg | |
ENST00000377999.5:c.2008A>G | ENSP00000367238.2:n.2008A>G | |
ENST00000462991.5:c.3358A>G | ||
ENST00000496404.1:c.3823A>G | ENSP00000433676.1:n.3823A>G | |
NM_015557.2:c.5105A>G | NP_056372.1:p.Lys1702Arg | |
NM_015557.3:c.5105A>G MANE Select | NP_056372.1:p.Lys1702Arg |