HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110573745G>A , CM000672.2:g.110573745G>A | GRCh38 |
NC_000010.10:g.112333503G>A , CM000672.1:g.112333503G>A | GRCh37 |
NC_000010.9:g.112323493G>A | NCBI36 |
NG_012217.1:g.11055G>A , LRG_774:g.11055G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.263G>A | ||
ENST00000687823.1:n.45-1591G>A | ||
ENST00000689932.1:n.603G>A | ||
ENST00000691297.1:n.263G>A | ||
ENST00000691527.1:n.220G>A | ||
ENST00000692792.1:n.249G>A | ||
ENST00000361804.5:c.130G>A MANE Select | ENSP00000354720.5:p.Ala44Thr | |
ENST00000361804.4:c.130G>A | ENSP00000354720.4:p.Ala44Thr | |
ENST00000462899.1:n.276G>A | ||
NM_005445.3:c.130G>A , LRG_774t1:c.130G>A | NP_005436.1:p.Ala44Thr | |
NM_005445.4:c.130G>A MANE Select | NP_005436.1:p.Ala44Thr |