HGVS | Genome Assembly |
---|---|
NC_000008.11:g.102206416A>T , CM000670.2:g.102206416A>T | GRCh38 |
NC_000008.10:g.103218644A>T , CM000670.1:g.103218644A>T | GRCh37 |
NC_000008.9:g.103287820A>T | NCBI36 |
NG_016617.1:g.37703T>A , LRG_788:g.37703T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251810.8:c.*1717T>A MANE Select | ENSP00000251810.3:n.*1717T>A | |
ENST00000251810.7:c.*1717T>A | ENSP00000251810.3:n.*1717T>A | |
ENST00000621845.1:c.*1577T>A | ENSP00000484318.1:n.*1577T>A | |
NM_001172477.1:c.*1717T>A , LRG_788t1:c.*1717T>A | NP_001165948.1:n.*1717T>A | |
NM_001172478.1:c.*1717T>A | NP_001165949.1:n.*1717T>A | |
NM_015713.4:c.*1717T>A , LRG_788t2:c.*1717T>A | NP_056528.2:n.*1717T>A | |
NM_001172478.2:c.*1717T>A | NP_001165949.1:n.*1717T>A | |
NM_015713.5:c.*1717T>A MANE Select | NP_056528.2:n.*1717T>A |