HGVS | Genome Assembly |
---|---|
NC_000009.12:g.114785332G>T , CM000671.2:g.114785332G>T | GRCh38 |
NC_000009.11:g.117547612G>T , CM000671.1:g.117547612G>T | GRCh37 |
NC_000009.10:g.116587433G>T | NCBI36 |
NG_011488.2:g.25797C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374045.5:c.*5120C>A MANE Select | ENSP00000363157.3:n.*5120C>A | |
ENST00000374045.4:c.*5120C>A | ENSP00000363157.3:n.*5120C>A | |
NM_001204344.1:c.5699C>A | NP_001191273.1:n.5699C>A | |
NM_005118.3:c.*5120C>A | NP_005109.2:n.*5120C>A | |
NM_005118.4:c.*5120C>A MANE Select | NP_005109.2:n.*5120C>A |