HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114785336T>G , CM000671.2:g.114785336T>G | GRCh38 |
NC_000009.11:g.117547616T>G , CM000671.1:g.117547616T>G | GRCh37 |
NC_000009.10:g.116587437T>G | NCBI36 |
NG_011488.2:g.25793A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.*5116A>C MANE Select | ENSP00000363157.3:n.*5116A>C | |
ENST00000374045.4:c.*5116A>C | ENSP00000363157.3:n.*5116A>C | |
NM_001204344.1:c.5695A>C | NP_001191273.1:n.5695A>C | |
NM_005118.3:c.*5116A>C | NP_005109.2:n.*5116A>C | |
NM_005118.4:c.*5116A>C MANE Select | NP_005109.2:n.*5116A>C |