HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63944657C= , CM000679.2:g.63944657C= | GRCh38 |
NC_000017.10:g.62022017C= , CM000679.1:g.62022017C= | GRCh37 |
NC_000017.9:g.59375749C= | NCBI36 |
NG_011699.1:g.33262G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.3912+16G= MANE Select | ENSP00000396320.1:n.3912+16G= | |
ENST00000578147.5:c.3916+12G= | ENSP00000463963.1:n.3916+12G= | |
NM_000334.4:c.3912+16G= MANE Select | NP_000325.4:n.3912+16G= | |
XM_005257566.3:c.3912+16G= | XP_005257623.1:n.3912+16G= |