HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112155C>T , CM000663.2:g.6112155C>T | GRCh38 |
NC_000001.10:g.6172215C>T , CM000663.1:g.6172215C>T | GRCh37 |
NC_000001.9:g.6094802C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262450.8:c.5125G>A MANE Select | ENSP00000262450.3:p.Asp1709Asn | |
ENST00000262450.7:c.5125G>A | ENSP00000262450.3:p.Asp1709Asn | |
ENST00000377999.5:c.2028G>A | ENSP00000367238.2:n.2028G>A | |
ENST00000462991.5:c.3378G>A | ||
ENST00000496404.1:c.3843G>A | ENSP00000433676.1:n.3843G>A | |
NM_015557.2:c.5125G>A | NP_056372.1:p.Asp1709Asn | |
NM_015557.3:c.5125G>A MANE Select | NP_056372.1:p.Asp1709Asn |