HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780551_6780552delinsTT , CM000679.2:g.6780551_6780552delinsTT | GRCh38 |
NC_000017.10:g.6683870_6683871delinsTT , CM000679.1:g.6683870_6683871delinsTT | GRCh37 |
NC_000017.9:g.6624594_6624595delinsTT | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.683_684delinsTT MANE Select | ENSP00000321386.4:p.Ser228Phe | |
ENST00000321535.4:c.683_684delinsTT | ENSP00000321386.4:p.Ser228Phe | |
NM_153230.2:c.683_684delinsTT | NP_694962.1:p.Ser228Phe | |
XM_011523697.1:c.683_684delinsTT | XP_011521999.1:p.Ser228Phe | |
XR_243544.3:n.861_862delinsTT | ||
NM_153230.3:c.683_684delinsTT MANE Select | NP_694962.1:p.Ser228Phe |