HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225564C>T , CM000673.2:g.5225564C>T | GRCh38 |
NC_000011.9:g.5246794C>T , CM000673.1:g.5246794C>T | GRCh37 |
NC_000011.8:g.5203370C>T | NCBI36 |
NG_000007.3:g.72052G>A | |
NG_059281.1:g.6508G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.*34G>A | ENSP00000494175.1:n.*34G>A | |
ENST00000335295.4:c.*34G>A MANE Select | ENSP00000333994.3:n.*34G>A | |
ENST00000633227.1:c.*294G>A | ENSP00000488004.1:n.*294G>A | |
NM_000518.4:c.*34G>A | NP_000509.1:n.*34G>A | |
NM_000518.5:c.*34G>A MANE Select | NP_000509.1:n.*34G>A |