HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31576050G>A , CM000668.2:g.31576050G>A | GRCh38 |
NC_000006.11:g.31543827G>A , CM000668.1:g.31543827G>A | GRCh37 |
NC_000006.10:g.31651806G>A | NCBI36 |
NG_007462.1:g.5478G>A | |
NG_012010.1:g.8952G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699334.1:c.186+123G>A | ENSP00000514308.1:n.186+123G>A | |
ENST00000449264.3:c.186+123G>A MANE Select | ENSP00000398698.2:n.186+123G>A | |
ENST00000449264.2:c.186+123G>A | ENSP00000398698.2:n.186+123G>A | |
NM_000594.3:c.186+123G>A | NP_000585.2:n.186+123G>A | |
NM_000594.4:c.186+123G>A MANE Select | NP_000585.2:n.186+123G>A |