HGVS | Genome Assembly |
---|---|
NC_000010.11:g.100045762T>C , CM000672.2:g.100045762T>C | GRCh38 |
NC_000010.10:g.101805519T>C , CM000672.1:g.101805519T>C | GRCh37 |
NC_000010.9:g.101795509T>C | NCBI36 |
NG_012060.1:g.41124A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370418.8:c.1230+2996A>G MANE Select | ENSP00000359446.3:n.1230+2996A>G | |
ENST00000370418.7:c.1230+2996A>G | ENSP00000359446.3:n.1230+2996A>G | |
NM_001308.2:c.1230+2996A>G | NP_001299.1:n.1230+2996A>G | |
XM_011539299.1:c.1272+2996A>G | XP_011537601.1:n.1272+2996A>G | |
NM_001308.3:c.1230+2996A>G MANE Select | NP_001299.1:n.1230+2996A>G |