HGVS | Genome Assembly |
---|---|
NC_000008.11:g.102208125G>A , CM000670.2:g.102208125G>A | GRCh38 |
NC_000008.10:g.103220353G>A , CM000670.1:g.103220353G>A | GRCh37 |
NC_000008.9:g.103289529G>A | NCBI36 |
NG_016617.1:g.35994C>T , LRG_788:g.35994C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251810.8:c.*8C>T MANE Select | ENSP00000251810.3:n.*8C>T | |
ENST00000251810.7:c.*8C>T | ENSP00000251810.3:n.*8C>T | |
ENST00000395910.6:n.451C>T | ||
ENST00000522368.5:c.1233C>T | ||
ENST00000621845.1:c.*8C>T | ENSP00000484318.1:n.*8C>T | |
NM_001172477.1:c.*8C>T , LRG_788t1:c.*8C>T | NP_001165948.1:n.*8C>T | |
NM_001172478.1:c.*8C>T | NP_001165949.1:n.*8C>T | |
NM_015713.4:c.*8C>T , LRG_788t2:c.*8C>T | NP_056528.2:n.*8C>T | |
NM_001172478.2:c.*8C>T | NP_001165949.1:n.*8C>T | |
NM_015713.5:c.*8C>T MANE Select | NP_056528.2:n.*8C>T |