HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273553G>A , CM000679.2:g.58273553G>A | GRCh38 |
NC_000017.10:g.56350914G>A , CM000679.1:g.56350914G>A | GRCh37 |
NC_000017.9:g.53705913G>A | NCBI36 |
NG_009629.1:g.12383C>T , LRG_84:g.12383C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.815C>T | ||
ENST00000699291.1:c.607C>T | ENSP00000514272.1:n.607C>T | |
ENST00000699292.1:n.522C>T | ||
ENST00000225275.4:c.1482C>T MANE Select | ENSP00000225275.3:p.Phe494= | |
ENST00000225275.3:c.1482C>T | ENSP00000225275.3:p.Phe494= | |
NM_000250.1:c.1482C>T , LRG_84t1:c.1482C>T | NP_000241.1:p.Phe494= | |
XM_011524821.1:c.1668C>T | XP_011523123.1:p.Phe556= | |
XM_011524822.1:c.1197C>T | XP_011523124.1:p.Phe399= | |
XM_011524823.1:c.*31C>T | XP_011523125.1:n.*31C>T | |
NM_000250.2:c.1482C>T MANE Select | NP_000241.1:p.Phe494= |