HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173287C= , CM000678.2:g.173287C= | GRCh38 |
NC_000016.9:g.223286C= , CM000678.1:g.223286C= | GRCh37 |
NC_000016.8:g.163286C= | NCBI36 |
NG_000006.1:g.34150C= | |
NG_059186.1:g.1637C= | |
NG_059271.1:g.5441C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.258C= MANE Select | ENSP00000251595.6:p.Asp86= | |
ENST00000251595.10:c.258C= | ENSP00000251595.6:p.Asp86= | |
ENST00000397806.1:c.162C= | ENSP00000380908.1:p.Asp54= | |
ENST00000482565.1:n.394C= | ||
ENST00000484216.1:n.227C= | ||
NM_000517.4:c.258C= | NP_000508.1:p.Asp86= | |
NM_000517.6:c.258C= MANE Select | NP_000508.1:p.Asp86= |