HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173599A= , CM000678.2:g.173599A= | GRCh38 |
NC_000016.9:g.223598A= , CM000678.1:g.223598A= | GRCh37 |
NC_000016.8:g.163598A= | NCBI36 |
NG_000006.1:g.34462A= | |
NG_059186.1:g.1949A= | |
NG_059271.1:g.5753A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.428A= MANE Select | ENSP00000251595.6:p.Ter143= | |
ENST00000251595.10:c.428A= | ENSP00000251595.6:p.Ter143= | |
ENST00000397806.1:c.332A= | ENSP00000380908.1:p.Ter111= | |
ENST00000482565.1:n.564A= | ||
NM_000517.4:c.428A= | NP_000508.1:p.Ter143= | |
NM_000517.6:c.428A= MANE Select | NP_000508.1:p.Ter143= |