HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991727G>C , CM000679.2:g.49991727G>C | GRCh38 |
NC_000017.10:g.48069091G>C , CM000679.1:g.48069091G>C | GRCh37 |
NC_000017.9:g.45424090G>C | NCBI36 |
NG_023063.1:g.8498C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.654C>G MANE Select | ENSP00000389870.2:p.Thr218= | |
ENST00000512495.2:c.294C>G | ENSP00000449976.1:p.Thr98= | |
NM_005220.2:c.654C>G | NP_005211.1:p.Thr218= | |
XM_011524458.1:c.516+1673C>G | XP_011522760.1:n.516+1673C>G | |
NM_005220.3:c.654C>G MANE Select | NP_005211.1:p.Thr218= |