HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085473T>A , CM000666.2:g.186085473T>A | GRCh38 |
NC_000004.11:g.187006627T>A , CM000666.1:g.187006627T>A | GRCh37 |
NC_000004.10:g.187243621T>A | NCBI36 |
NG_007278.1:g.21319T>A , LRG_117:g.21319T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698352.1:c.*2867T>A | ENSP00000513675.1:n.*2867T>A | |
ENST00000698353.1:n.3190T>A | ||
ENST00000698354.1:c.*600T>A | ENSP00000513676.1:n.*600T>A | |
ENST00000296795.8:c.*600T>A MANE Select | ENSP00000296795.3:n.*600T>A | |
ENST00000296795.7:c.*600T>A | ENSP00000296795.2:n.*600T>A | |
NM_003265.3:c.*600T>A MANE Select | NP_003256.1:n.*600T>A |