HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173454A= , CM000678.2:g.173454A= | GRCh38 |
NC_000016.9:g.223453A= , CM000678.1:g.223453A= | GRCh37 |
NC_000016.8:g.163453A= | NCBI36 |
NG_000006.1:g.34317A= | |
NG_059186.1:g.1804A= | |
NG_059271.1:g.5608A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.301-18A= MANE Select | ENSP00000251595.6:n.301-18A= | |
ENST00000251595.10:c.301-18A= | ENSP00000251595.6:n.301-18A= | |
ENST00000397806.1:c.205-18A= | ENSP00000380908.1:n.205-18A= | |
ENST00000482565.1:n.437-18A= | ||
ENST00000484216.1:n.394A= | ||
NM_000517.4:c.301-18A= | NP_000508.1:n.301-18A= | |
NM_000517.6:c.301-18A= MANE Select | NP_000508.1:n.301-18A= |