HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63945520T>A , CM000679.2:g.63945520T>A | GRCh38 |
NC_000017.10:g.62022880T>A , CM000679.1:g.62022880T>A | GRCh37 |
NC_000017.9:g.59376612T>A | NCBI36 |
NG_011699.1:g.32399A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000435607.3:c.3560A>T MANE Select | ENSP00000396320.1:p.Tyr1187Phe | |
ENST00000578147.5:c.3560A>T | ENSP00000463963.1:p.Tyr1187Phe | |
NM_000334.4:c.3560A>T MANE Select | NP_000325.4:p.Tyr1187Phe | |
XM_005257566.3:c.3560A>T | XP_005257623.1:p.Tyr1187Phe |