HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571662T>G , CM000663.2:g.154571662T>G | GRCh38 |
NC_000001.10:g.154544138T>G , CM000663.1:g.154544138T>G | GRCh37 |
NC_000001.9:g.152810762T>G | NCBI36 |
NG_008027.1:g.8882T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.839T>G MANE Select | ENSP00000357461.3:p.Leu280Arg | |
ENST00000636034.1:c.839T>G | ENSP00000489703.1:p.Leu280Arg | |
ENST00000637900.1:c.845T>G | ENSP00000490474.1:p.Leu282Arg | |
ENST00000368476.3:c.839T>G | ENSP00000357461.3:p.Leu280Arg | |
NM_000748.2:c.839T>G | NP_000739.1:p.Leu280Arg | |
XM_017000180.2:c.329T>G | XP_016855669.1:p.Leu110Arg | |
XR_001736952.2:n.1091T>G | ||
NM_000748.3:c.839T>G MANE Select | NP_000739.1:p.Leu280Arg |