HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353315A>T , CM000674.2:g.69353315A>T | GRCh38 |
NC_000012.11:g.69747095A>T , CM000674.1:g.69747095A>T | GRCh37 |
NC_000012.10:g.68033362A>T | NCBI36 |
NG_008195.1:g.9962A>T , LRG_768:g.9962A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*96A>T MANE Select | ENSP00000261267.2:n.*96A>T | |
ENST00000261267.6:c.*96A>T | ENSP00000261267.2:n.*96A>T | |
ENST00000549690.1:c.*50A>T | ENSP00000449898.1:n.*50A>T | |
NM_000239.2:c.*96A>T , LRG_768t1:c.*96A>T | NP_000230.1:n.*96A>T | |
NM_000239.3:c.*96A>T MANE Select | NP_000230.1:n.*96A>T |