HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045946C>A , CM000675.2:g.48045946C>A | GRCh38 |
NC_000013.10:g.48620082C>A , CM000675.1:g.48620082C>A | GRCh37 |
NC_000013.9:g.47518083C>A | NCBI36 |
NG_047021.1:g.13380C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.*147C>A MANE Select | ENSP00000258662.1:n.*147C>A | |
ENST00000258662.2:c.*147C>A | ENSP00000258662.1:n.*147C>A | |
NM_018283.2:c.*147C>A | NP_060753.1:n.*147C>A | |
NM_018283.3:c.*147C>A | NP_060753.1:n.*147C>A | |
NR_136687.1:n.718+104C>A | ||
NR_136688.1:n.675+147C>A | ||
NM_018283.4:c.*147C>A MANE Select | NP_060753.1:n.*147C>A | |
NR_136687.2:n.559+104C>A | ||
NR_136688.2:n.516+147C>A |