HGVS | Genome Assembly |
---|---|
NC_000003.12:g.123121029G>A , CM000665.2:g.123121029G>A | GRCh38 |
NC_000003.11:g.122839876G>A , CM000665.1:g.122839876G>A | GRCh37 |
NC_000003.10:g.124322566G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316218.12:c.610-3037G>A MANE Select | ENSP00000323313.7:n.610-3037G>A | |
ENST00000316218.11:c.610-3037G>A | ENSP00000323313.7:n.610-3037G>A | |
ENST00000489923.5:c.610-3037G>A | ENSP00000417520.1:n.610-3037G>A | |
NM_006810.3:c.610-3037G>A | NP_006801.1:n.610-3037G>A | |
NR_028444.1:n.766-3037G>A | ||
XR_427359.1:n.750-3037G>A | ||
XR_427360.1:n.750-3037G>A | ||
NM_006810.4:c.610-3037G>A MANE Select | NP_006801.1:n.610-3037G>A | |
NR_028444.2:n.750-3037G>A |