HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172912C>A , CM000678.2:g.172912C>A | GRCh38 |
NC_000016.9:g.222911C>A , CM000678.1:g.222911C>A | GRCh37 |
NC_000016.8:g.162911C>A | NCBI36 |
NG_000006.1:g.33775C>A | |
NG_059186.1:g.1262C>A | |
NG_059271.1:g.5066C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.-1C>A MANE Select | ENSP00000251595.6:n.-1C>A | |
ENST00000251595.10:c.-1C>A | ENSP00000251595.6:n.-1C>A | |
ENST00000397806.1:c.-48C>A | ENSP00000380908.1:n.-48C>A | |
ENST00000482565.1:n.19C>A | ||
NM_000517.4:c.-1C>A | NP_000508.1:n.-1C>A | |
NM_000517.6:c.-1C>A MANE Select | NP_000508.1:n.-1C>A |