HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110577424G>C , CM000672.2:g.110577424G>C | GRCh38 |
NC_000010.10:g.112337182G>C , CM000672.1:g.112337182G>C | GRCh37 |
NC_000010.9:g.112327172G>C | NCBI36 |
NG_012217.1:g.14734G>C , LRG_774:g.14734G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.335G>C | ||
ENST00000687823.1:n.116G>C | ||
ENST00000689932.1:n.2265G>C | ||
ENST00000691297.1:n.335G>C | ||
ENST00000691527.1:n.292G>C | ||
ENST00000692792.1:n.321G>C | ||
ENST00000361804.5:c.202G>C MANE Select | ENSP00000354720.5:p.Gly68Arg | |
ENST00000361804.4:c.202G>C | ENSP00000354720.4:p.Gly68Arg | |
ENST00000462899.1:n.348G>C | ||
NM_005445.3:c.202G>C , LRG_774t1:c.202G>C | NP_005436.1:p.Gly68Arg | |
NM_005445.4:c.202G>C MANE Select | NP_005436.1:p.Gly68Arg |