HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42544175T>G , CM000679.2:g.42544175T>G | GRCh38 |
NC_000017.10:g.40696193T>G , CM000679.1:g.40696193T>G | GRCh37 |
NC_000017.9:g.37949719T>G | NCBI36 |
NG_011552.1:g.13243T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.2169T>G MANE Select | ENSP00000225927.1:p.Thr723= | |
ENST00000225927.6:c.2169T>G | ENSP00000225927.1:p.Thr723= | |
NM_000263.3:c.2169T>G | NP_000254.2:p.Thr723= | |
XM_006721920.2:c.1338T>G | XP_006721983.1:p.Thr446= | |
XM_011524840.1:c.1170T>G | XP_011523142.1:p.Thr390= | |
XM_017024687.1:c.1338T>G | XP_016880176.1:p.Thr446= | |
XM_024450771.1:c.2226T>G | XP_024306539.1:p.Thr742= | |
XM_024450772.1:c.1170T>G | XP_024306540.1:p.Thr390= | |
NM_000263.4:c.2169T>G MANE Select | NP_000254.2:p.Thr723= |