HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49995140G>A , CM000679.2:g.49995140G>A | GRCh38 |
NC_000017.10:g.48072504G>A , CM000679.1:g.48072504G>A | GRCh37 |
NC_000017.9:g.45427503G>A | NCBI36 |
NG_023063.1:g.5085C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.-142C>T MANE Select | ENSP00000389870.2:n.-142C>T | |
NM_005220.2:c.-142C>T | NP_005211.1:n.-142C>T | |
XM_011524458.1:c.-142C>T | XP_011522760.1:n.-142C>T | |
NM_005220.3:c.-142C>T MANE Select | NP_005211.1:n.-142C>T |