HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49995133G>C , CM000679.2:g.49995133G>C | GRCh38 |
NC_000017.10:g.48072497G>C , CM000679.1:g.48072497G>C | GRCh37 |
NC_000017.9:g.45427496G>C | NCBI36 |
NG_023063.1:g.5092C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.-135C>G MANE Select | ENSP00000389870.2:n.-135C>G | |
NM_005220.2:c.-135C>G | NP_005211.1:n.-135C>G | |
XM_011524458.1:c.-135C>G | XP_011522760.1:n.-135C>G | |
NM_005220.3:c.-135C>G MANE Select | NP_005211.1:n.-135C>G |