HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40098931G= , CM000679.2:g.40098931G= | GRCh38 |
NC_000017.10:g.38255184G= , CM000679.1:g.38255184G= | GRCh37 |
NC_000017.9:g.35508710G= | NCBI36 |
NG_033084.1:g.6795C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246672.4:c.31+1133C= MANE Select | ENSP00000246672.3:n.31+1133C= | |
ENST00000246672.3:c.31+1133C= | ENSP00000246672.3:n.31+1133C= | |
NM_021724.4:c.31+1133C= | NP_068370.1:n.31+1133C= | |
NM_021724.5:c.31+1133C= MANE Select | NP_068370.1:n.31+1133C= |