HGVS | Genome Assembly |
---|---|
NC_000008.11:g.102207264C>A , CM000670.2:g.102207264C>A | GRCh38 |
NC_000008.10:g.103219492C>A , CM000670.1:g.103219492C>A | GRCh37 |
NC_000008.9:g.103288668C>A | NCBI36 |
NG_016617.1:g.36855G>T , LRG_788:g.36855G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251810.8:c.*869G>T MANE Select | ENSP00000251810.3:n.*869G>T | |
ENST00000251810.7:c.*869G>T | ENSP00000251810.3:n.*869G>T | |
ENST00000621845.1:c.*807+62G>T | ENSP00000484318.1:n.*807+62G>T | |
NM_001172477.1:c.*869G>T , LRG_788t1:c.*869G>T | NP_001165948.1:n.*869G>T | |
NM_001172478.1:c.*869G>T | NP_001165949.1:n.*869G>T | |
NM_015713.4:c.*869G>T , LRG_788t2:c.*869G>T | NP_056528.2:n.*869G>T | |
NM_001172478.2:c.*869G>T | NP_001165949.1:n.*869G>T | |
NM_015713.5:c.*869G>T MANE Select | NP_056528.2:n.*869G>T |