HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173036G= , CM000678.2:g.173036G= | GRCh38 |
NC_000016.9:g.223035G= , CM000678.1:g.223035G= | GRCh37 |
NC_000016.8:g.163035G= | NCBI36 |
NG_000006.1:g.33899G= | |
NG_059186.1:g.1386G= | |
NG_059271.1:g.5190G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.95+29G= MANE Select | ENSP00000251595.6:n.95+29G= | |
ENST00000251595.10:c.95+29G= | ENSP00000251595.6:n.95+29G= | |
ENST00000397806.1:c.-2+78G= | ENSP00000380908.1:n.-2+78G= | |
ENST00000482565.1:n.143G= | ||
ENST00000484216.1:n.64+29G= | ||
NM_000517.4:c.95+29G= | NP_000508.1:n.95+29G= | |
NM_000517.6:c.95+29G= MANE Select | NP_000508.1:n.95+29G= |