HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97611183G>A , CM000672.2:g.97611183G>A | GRCh38 |
NC_000010.10:g.99370940G>A , CM000672.1:g.99370940G>A | GRCh37 |
NC_000010.9:g.99360930G>A | NCBI36 |
NG_027922.1:g.31839G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370646.9:c.835-327G>A MANE Select | ENSP00000359680.4:n.835-327G>A | |
ENST00000370646.8:c.835-327G>A | ENSP00000359680.4:n.835-327G>A | |
ENST00000370647.8:c.346-327G>A | ENSP00000359681.4:n.346-327G>A | |
ENST00000370649.3:c.345+9193G>A | ENSP00000359683.3:n.345+9193G>A | |
NM_001134670.1:c.346-327G>A | NP_001128142.1:n.346-327G>A | |
NM_138413.3:c.835-327G>A | NP_612422.2:n.835-327G>A | |
NM_138413.4:c.835-327G>A MANE Select | NP_612422.2:n.835-327G>A | |
NM_001134670.2:c.346-327G>A | NP_001128142.1:n.346-327G>A |