HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63944653G>T , CM000679.2:g.63944653G>T | GRCh38 |
NC_000017.10:g.62022013G>T , CM000679.1:g.62022013G>T | GRCh37 |
NC_000017.9:g.59375745G>T | NCBI36 |
NG_011699.1:g.33266C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.3912+20C>A MANE Select | ENSP00000396320.1:n.3912+20C>A | |
ENST00000578147.5:c.3916+16C>A | ENSP00000463963.1:n.3916+16C>A | |
NM_000334.4:c.3912+20C>A MANE Select | NP_000325.4:n.3912+20C>A | |
XM_005257566.3:c.3912+20C>A | XP_005257623.1:n.3912+20C>A |