HGVS | Genome Assembly |
---|---|
NC_000004.12:g.46123682G>T , CM000666.2:g.46123682G>T | GRCh38 |
NC_000004.11:g.46125699G>T , CM000666.1:g.46125699G>T | GRCh37 |
NC_000004.10:g.45820456G>T | NCBI36 |
NG_046964.1:g.5384C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295452.5:c.104+128C>A MANE Select | ENSP00000295452.4:n.104+128C>A | |
ENST00000295452.4:c.104+128C>A | ENSP00000295452.4:n.104+128C>A | |
NM_173536.3:c.104+128C>A | NP_775807.2:n.104+128C>A | |
NM_173536.4:c.104+128C>A MANE Select | NP_775807.2:n.104+128C>A |