HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114785463G>A , CM000671.2:g.114785463G>A | GRCh38 |
NC_000009.11:g.117547743G>A , CM000671.1:g.117547743G>A | GRCh37 |
NC_000009.10:g.116587564G>A | NCBI36 |
NG_011488.2:g.25666C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.*4989C>T MANE Select | ENSP00000363157.3:n.*4989C>T | |
ENST00000374045.4:c.*4989C>T | ENSP00000363157.3:n.*4989C>T | |
NM_001204344.1:c.5568C>T | NP_001191273.1:n.5568C>T | |
NM_005118.3:c.*4989C>T | NP_005109.2:n.*4989C>T | |
NM_005118.4:c.*4989C>T MANE Select | NP_005109.2:n.*4989C>T |