HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173416T= , CM000678.2:g.173416T= | GRCh38 |
NC_000016.9:g.223415T= , CM000678.1:g.223415T= | GRCh37 |
NC_000016.8:g.163415T= | NCBI36 |
NG_000006.1:g.34279T= | |
NG_059186.1:g.1766T= | |
NG_059271.1:g.5570T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.301-56T= MANE Select | ENSP00000251595.6:n.301-56T= | |
ENST00000251595.10:c.301-56T= | ENSP00000251595.6:n.301-56T= | |
ENST00000397806.1:c.205-56T= | ENSP00000380908.1:n.205-56T= | |
ENST00000482565.1:n.437-56T= | ||
ENST00000484216.1:n.356T= | ||
NM_000517.4:c.301-56T= | NP_000508.1:n.301-56T= | |
NM_000517.6:c.301-56T= MANE Select | NP_000508.1:n.301-56T= |