HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110577530A>C , CM000672.2:g.110577530A>C | GRCh38 |
NC_000010.10:g.112337288A>C , CM000672.1:g.112337288A>C | GRCh37 |
NC_000010.9:g.112327278A>C | NCBI36 |
NG_012217.1:g.14840A>C , LRG_774:g.14840A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.403+38A>C | ||
ENST00000687823.1:n.184+38A>C | ||
ENST00000689932.1:n.2333+38A>C | ||
ENST00000691297.1:n.403+38A>C | ||
ENST00000691527.1:n.360+38A>C | ||
ENST00000692792.1:n.389+38A>C | ||
ENST00000361804.5:c.270+38A>C MANE Select | ENSP00000354720.5:n.270+38A>C | |
ENST00000361804.4:c.270+38A>C | ENSP00000354720.4:n.270+38A>C | |
ENST00000462899.1:n.416+38A>C | ||
NM_005445.3:c.270+38A>C , LRG_774t1:c.270+38A>C | NP_005436.1:n.270+38A>C | |
NM_005445.4:c.270+38A>C MANE Select | NP_005436.1:n.270+38A>C |