HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58273556G>A , CM000679.2:g.58273556G>A | GRCh38 |
NC_000017.10:g.56350917G>A , CM000679.1:g.56350917G>A | GRCh37 |
NC_000017.9:g.53705916G>A | NCBI36 |
NG_009629.1:g.12380C>T , LRG_84:g.12380C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000578493.2:n.812C>T | ||
ENST00000699291.1:c.604C>T | ENSP00000514272.1:n.604C>T | |
ENST00000699292.1:n.519C>T | ||
ENST00000225275.4:c.1479C>T MANE Select | ENSP00000225275.3:p.Val493= | |
ENST00000225275.3:c.1479C>T | ENSP00000225275.3:p.Val493= | |
NM_000250.1:c.1479C>T , LRG_84t1:c.1479C>T | NP_000241.1:p.Val493= | |
XM_011524821.1:c.1665C>T | XP_011523123.1:p.Val555= | |
XM_011524822.1:c.1194C>T | XP_011523124.1:p.Val398= | |
XM_011524823.1:c.*28C>T | XP_011523125.1:n.*28C>T | |
NM_000250.2:c.1479C>T MANE Select | NP_000241.1:p.Val493= |