HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353347A>T , CM000674.2:g.69353347A>T | GRCh38 |
NC_000012.11:g.69747127A>T , CM000674.1:g.69747127A>T | GRCh37 |
NC_000012.10:g.68033394A>T | NCBI36 |
NG_008195.1:g.9994A>T , LRG_768:g.9994A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*128A>T MANE Select | ENSP00000261267.2:n.*128A>T | |
ENST00000261267.6:c.*128A>T | ENSP00000261267.2:n.*128A>T | |
ENST00000549690.1:c.*82A>T | ENSP00000449898.1:n.*82A>T | |
NM_000239.2:c.*128A>T , LRG_768t1:c.*128A>T | NP_000230.1:n.*128A>T | |
NM_000239.3:c.*128A>T MANE Select | NP_000230.1:n.*128A>T |