HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738875_120738876delinsTT , CM000674.2:g.120738875_120738876delinsTT | GRCh38 |
NC_000012.11:g.121176678_121176679delinsTT , CM000674.1:g.121176678_121176679delinsTT | GRCh37 |
NC_000012.10:g.119661061_119661062delinsTT | NCBI36 |
NG_007991.1:g.18108_18109delinsTT |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242592.9:c.989_990delinsTT MANE Select | ENSP00000242592.4:p.Arg330Leu | |
ENST00000242592.8:c.989_990delinsTT | ENSP00000242592.4:p.Arg330Leu | |
ENST00000411593.2:c.977_978delinsTT | ENSP00000401045.2:p.Arg326Leu | |
NM_000017.3:c.989_990delinsTT | NP_000008.1:p.Arg330Leu | |
NM_001302554.1:c.977_978delinsTT | NP_001289483.1:p.Arg326Leu | |
NM_000017.4:c.989_990delinsTT MANE Select | NP_000008.1:p.Arg330Leu | |
NM_001302554.2:c.977_978delinsTT | NP_001289483.1:p.Arg326Leu |