HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112171G>A , CM000663.2:g.6112171G>A | GRCh38 |
NC_000001.10:g.6172231G>A , CM000663.1:g.6172231G>A | GRCh37 |
NC_000001.9:g.6094818G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262450.8:c.5109C>T MANE Select | ENSP00000262450.3:p.Phe1703= | |
ENST00000262450.7:c.5109C>T | ENSP00000262450.3:p.Phe1703= | |
ENST00000377999.5:c.2012C>T | ENSP00000367238.2:n.2012C>T | |
ENST00000462991.5:c.3362C>T | ||
ENST00000496404.1:c.3827C>T | ENSP00000433676.1:n.3827C>T | |
NM_015557.2:c.5109C>T | NP_056372.1:p.Phe1703= | |
NM_015557.3:c.5109C>T MANE Select | NP_056372.1:p.Phe1703= |