HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173223A>T , CM000678.2:g.173223A>T | GRCh38 |
NC_000016.9:g.223222A>T , CM000678.1:g.223222A>T | GRCh37 |
NC_000016.8:g.163222A>T | NCBI36 |
NG_000006.1:g.34086A>T | |
NG_059186.1:g.1573A>T | |
NG_059271.1:g.5377A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.194A>T MANE Select | ENSP00000251595.6:p.Asp65Val | |
ENST00000251595.10:c.194A>T | ENSP00000251595.6:p.Asp65Val | |
ENST00000397806.1:c.98A>T | ENSP00000380908.1:p.Asp33Val | |
ENST00000482565.1:n.330A>T | ||
ENST00000484216.1:n.163A>T | ||
NM_000517.4:c.194A>T | NP_000508.1:p.Asp65Val | |
NM_000517.6:c.194A>T MANE Select | NP_000508.1:p.Asp65Val |