HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123412G>A , CM000679.2:g.72123412G>A | GRCh38 |
NC_000017.10:g.70119553G>A , CM000679.1:g.70119553G>A | GRCh37 |
NC_000017.9:g.67631148G>A | NCBI36 |
NG_012490.1:g.7393G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.686-131G>A MANE Select | ENSP00000245479.2:n.686-131G>A | |
ENST00000245479.2:c.686-131G>A | ENSP00000245479.2:n.686-131G>A | |
NM_000346.3:c.686-131G>A | NP_000337.1:n.686-131G>A | |
NM_000346.4:c.686-131G>A MANE Select | NP_000337.1:n.686-131G>A |