HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63944669T>A , CM000679.2:g.63944669T>A | GRCh38 |
NC_000017.10:g.62022029T>A , CM000679.1:g.62022029T>A | GRCh37 |
NC_000017.9:g.59375761T>A | NCBI36 |
NG_011699.1:g.33250A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.3912+4A>T MANE Select | ENSP00000396320.1:n.3912+4A>T | |
ENST00000578147.5:c.3916A>T | ENSP00000463963.1:p.Arg1306Trp | |
NM_000334.4:c.3912+4A>T MANE Select | NP_000325.4:n.3912+4A>T | |
XM_005257566.3:c.3912+4A>T | XP_005257623.1:n.3912+4A>T |