HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97598858G>A , CM000672.2:g.97598858G>A | GRCh38 |
NC_000010.10:g.99358615G>A , CM000672.1:g.99358615G>A | GRCh37 |
NC_000010.9:g.99348605G>A | NCBI36 |
NG_027922.1:g.19514G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370646.9:c.295G>A MANE Select | ENSP00000359680.4:p.Ala99Thr | |
ENST00000370646.8:c.295G>A | ENSP00000359680.4:p.Ala99Thr | |
ENST00000370647.8:c.212-2999G>A | ENSP00000359681.4:n.212-2999G>A | |
ENST00000370649.3:c.212-2999G>A | ENSP00000359683.3:n.212-2999G>A | |
ENST00000465608.1:n.676G>A | ||
NM_001134670.1:c.212-2999G>A | NP_001128142.1:n.212-2999G>A | |
NM_138413.3:c.295G>A | NP_612422.2:p.Ala99Thr | |
NM_138413.4:c.295G>A MANE Select | NP_612422.2:p.Ala99Thr | |
NM_001134670.2:c.212-2999G>A | NP_001128142.1:n.212-2999G>A |