HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991724A>G , CM000679.2:g.49991724A>G | GRCh38 |
NC_000017.10:g.48069088A>G , CM000679.1:g.48069088A>G | GRCh37 |
NC_000017.9:g.45424087A>G | NCBI36 |
NG_023063.1:g.8501T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.657T>C MANE Select | ENSP00000389870.2:p.Ser219= | |
ENST00000512495.2:c.297T>C | ENSP00000449976.1:p.Ser99= | |
NM_005220.2:c.657T>C | NP_005211.1:p.Ser219= | |
XM_011524458.1:c.516+1676T>C | XP_011522760.1:n.516+1676T>C | |
NM_005220.3:c.657T>C MANE Select | NP_005211.1:p.Ser219= |