HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173456C= , CM000678.2:g.173456C= | GRCh38 |
NC_000016.9:g.223455C= , CM000678.1:g.223455C= | GRCh37 |
NC_000016.8:g.163455C= | NCBI36 |
NG_000006.1:g.34319C= | |
NG_059186.1:g.1806C= | |
NG_059271.1:g.5610C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.301-16C= MANE Select | ENSP00000251595.6:n.301-16C= | |
ENST00000251595.10:c.301-16C= | ENSP00000251595.6:n.301-16C= | |
ENST00000397806.1:c.205-16C= | ENSP00000380908.1:n.205-16C= | |
ENST00000482565.1:n.437-16C= | ||
ENST00000484216.1:n.396C= | ||
NM_000517.4:c.301-16C= | NP_000508.1:n.301-16C= | |
NM_000517.6:c.301-16C= MANE Select | NP_000508.1:n.301-16C= |