HGVS | Genome Assembly |
---|---|
NC_000004.12:g.46085727G>T , CM000666.2:g.46085727G>T | GRCh38 |
NC_000004.11:g.46087744G>T , CM000666.1:g.46087744G>T | GRCh37 |
NC_000004.10:g.45782501G>T | NCBI36 |
NG_046964.1:g.43339C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295452.5:c.254-1674C>A MANE Select | ENSP00000295452.4:n.254-1674C>A | |
ENST00000295452.4:c.254-1674C>A | ENSP00000295452.4:n.254-1674C>A | |
NM_173536.3:c.254-1674C>A | NP_775807.2:n.254-1674C>A | |
NM_173536.4:c.254-1674C>A MANE Select | NP_775807.2:n.254-1674C>A |