HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94974473G>A , CM000672.2:g.94974473G>A | GRCh38 |
NC_000010.10:g.96734230G>A , CM000672.1:g.96734230G>A | GRCh37 |
NC_000010.9:g.96724220G>A | NCBI36 |
NG_008385.1:g.40816G>A | |
NG_008385.2:g.41316G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.961+2228G>A MANE Select | ENSP00000260682.6:n.961+2228G>A | |
ENST00000643112.1:c.820-6710G>A | ENSP00000496202.1:n.820-6710G>A | |
ENST00000260682.6:c.961+2228G>A | ENSP00000260682.6:n.961+2228G>A | |
NM_000771.3:c.961+2228G>A | NP_000762.2:n.961+2228G>A | |
NM_000771.4:c.961+2228G>A MANE Select | NP_000762.2:n.961+2228G>A |