HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49995108A>G , CM000679.2:g.49995108A>G | GRCh38 |
NC_000017.10:g.48072472A>G , CM000679.1:g.48072472A>G | GRCh37 |
NC_000017.9:g.45427471A>G | NCBI36 |
NG_023063.1:g.5117T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.-110T>C MANE Select | ENSP00000389870.2:n.-110T>C | |
NM_005220.2:c.-110T>C | NP_005211.1:n.-110T>C | |
XM_011524458.1:c.-110T>C | XP_011522760.1:n.-110T>C | |
NM_005220.3:c.-110T>C MANE Select | NP_005211.1:n.-110T>C |