HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63961338A>T , CM000679.2:g.63961338A>T | GRCh38 |
NC_000017.10:g.62038698A>T , CM000679.1:g.62038698A>T | GRCh37 |
NC_000017.9:g.59392430A>T | NCBI36 |
NG_011699.1:g.16581T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000435607.3:c.1700T>A MANE Select | ENSP00000396320.1:p.Phe567Tyr | |
ENST00000578147.5:c.1700T>A | ENSP00000463963.1:p.Phe567Tyr | |
ENST00000581514.1:n.356T>A | ||
NM_000334.4:c.1700T>A MANE Select | NP_000325.4:p.Phe567Tyr | |
XM_005257566.3:c.1700T>A | XP_005257623.1:p.Phe567Tyr | |
XR_934910.1:n.124+616A>T | ||
XR_001752969.1:n.1276+616A>T | ||
XR_934910.2:n.1276+616A>T |