HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173617C>T , CM000678.2:g.173617C>T | GRCh38 |
NC_000016.9:g.223616C>T , CM000678.1:g.223616C>T | GRCh37 |
NC_000016.8:g.163616C>T | NCBI36 |
NG_000006.1:g.34480C>T | |
NG_059186.1:g.1967C>T | |
NG_059271.1:g.5771C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.*17C>T MANE Select | ENSP00000251595.6:n.*17C>T | |
ENST00000251595.10:c.*17C>T | ENSP00000251595.6:n.*17C>T | |
ENST00000397806.1:c.*17C>T | ENSP00000380908.1:n.*17C>T | |
ENST00000482565.1:n.582C>T | ||
NM_000517.4:c.*17C>T | NP_000508.1:n.*17C>T | |
NM_000517.6:c.*17C>T MANE Select | NP_000508.1:n.*17C>T |