HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755727G>C , CM000679.2:g.43755727G>C | GRCh38 |
NC_000017.10:g.41833095G>C , CM000679.1:g.41833095G>C | GRCh37 |
NC_000017.9:g.39188621G>C | NCBI36 |
NG_008078.2:g.8062C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.257C>G MANE Select | ENSP00000301691.1:p.Thr86Ser | |
ENST00000301691.2:c.257C>G | ENSP00000301691.1:p.Thr86Ser | |
NM_025237.2:c.257C>G | NP_079513.1:p.Thr86Ser | |
NM_025237.3:c.257C>G MANE Select | NP_079513.1:p.Thr86Ser |