HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945631G>A , CM000671.2:g.128945631G>A | GRCh38 |
NC_000009.11:g.131707910G>A , CM000671.1:g.131707910G>A | GRCh37 |
NC_000009.10:g.130747731G>A | NCBI36 |
NG_017009.1:g.7103C>T , LRG_744:g.7103C>T | |
NG_033111.1:g.2939G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.*56C>T MANE Select | ENSP00000361667.3:n.*56C>T | |
ENST00000372586.3:c.*56C>T | ENSP00000361667.3:n.*56C>T | |
ENST00000482796.1:c.39-3558G>A | ENSP00000417556.2:n.39-3558G>A | |
NM_014908.3:c.*56C>T , LRG_744t1:c.*56C>T | NP_055723.1:n.*56C>T | |
NM_014908.4:c.*56C>T MANE Select | NP_055723.1:n.*56C>T |