HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10284771G>A , CM000681.2:g.10284771G>A | GRCh38 |
NC_000019.9:g.10395447G>A , CM000681.1:g.10395447G>A | GRCh37 |
NC_000019.8:g.10256447G>A | NCBI36 |
NG_007728.1:g.2798G>A | |
NG_012083.1:g.18931G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264832.8:c.1181-12G>A MANE Select | ENSP00000264832.2:n.1181-12G>A | |
ENST00000264832.7:c.1181-12G>A | ENSP00000264832.2:n.1181-12G>A | |
ENST00000423829.2:c.515-12G>A | ENSP00000413124.2:n.515-12G>A | |
NM_000201.2:c.1181-12G>A | NP_000192.2:n.1181-12G>A | |
NM_000201.3:c.1181-12G>A MANE Select | NP_000192.2:n.1181-12G>A |