HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173343C= , CM000678.2:g.173343C= | GRCh38 |
NC_000016.9:g.223342C= , CM000678.1:g.223342C= | GRCh37 |
NC_000016.8:g.163342C= | NCBI36 |
NG_000006.1:g.34206C= | |
NG_059186.1:g.1693C= | |
NG_059271.1:g.5497C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.300+14C= MANE Select | ENSP00000251595.6:n.300+14C= | |
ENST00000251595.10:c.300+14C= | ENSP00000251595.6:n.300+14C= | |
ENST00000397806.1:c.204+14C= | ENSP00000380908.1:n.204+14C= | |
ENST00000482565.1:n.436+14C= | ||
ENST00000484216.1:n.283C= | ||
NM_000517.4:c.300+14C= | NP_000508.1:n.300+14C= | |
NM_000517.6:c.300+14C= MANE Select | NP_000508.1:n.300+14C= |