HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110589917G>T , CM000672.2:g.110589917G>T | GRCh38 |
NC_000010.10:g.112349675G>T , CM000672.1:g.112349675G>T | GRCh37 |
NC_000010.9:g.112339665G>T | NCBI36 |
NG_012217.1:g.27227G>T , LRG_774:g.27227G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684797.1:n.1335G>T | ||
ENST00000684988.1:n.2080G>T | ||
ENST00000687823.1:n.1349G>T | ||
ENST00000689932.1:n.3498G>T | ||
ENST00000691297.1:n.1568G>T | ||
ENST00000691527.1:n.2238G>T | ||
ENST00000692792.1:n.1554G>T | ||
ENST00000361804.5:c.1435G>T MANE Select | ENSP00000354720.5:p.Glu479Ter | |
ENST00000361804.4:c.1435G>T | ENSP00000354720.4:p.Glu479Ter | |
NM_005445.3:c.1435G>T , LRG_774t1:c.1435G>T | NP_005436.1:p.Glu479Ter | |
NM_005445.4:c.1435G>T MANE Select | NP_005436.1:p.Glu479Ter |