HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114785433C>T , CM000671.2:g.114785433C>T | GRCh38 |
NC_000009.11:g.117547713C>T , CM000671.1:g.117547713C>T | GRCh37 |
NC_000009.10:g.116587534C>T | NCBI36 |
NG_011488.2:g.25696G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.*5019G>A MANE Select | ENSP00000363157.3:n.*5019G>A | |
ENST00000374045.4:c.*5019G>A | ENSP00000363157.3:n.*5019G>A | |
NM_001204344.1:c.5598G>A | NP_001191273.1:n.5598G>A | |
NM_005118.3:c.*5019G>A | NP_005109.2:n.*5019G>A | |
NM_005118.4:c.*5019G>A MANE Select | NP_005109.2:n.*5019G>A |