HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173057C= , CM000678.2:g.173057C= | GRCh38 |
NC_000016.9:g.223056C= , CM000678.1:g.223056C= | GRCh37 |
NC_000016.8:g.163056C= | NCBI36 |
NG_000006.1:g.33920C= | |
NG_059186.1:g.1407C= | |
NG_059271.1:g.5211C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.95+50C= MANE Select | ENSP00000251595.6:n.95+50C= | |
ENST00000251595.10:c.95+50C= | ENSP00000251595.6:n.95+50C= | |
ENST00000397806.1:c.-1-68C= | ENSP00000380908.1:n.-1-68C= | |
ENST00000482565.1:n.164C= | ||
ENST00000484216.1:n.64+50C= | ||
NM_000517.4:c.95+50C= | NP_000508.1:n.95+50C= | |
NM_000517.6:c.95+50C= MANE Select | NP_000508.1:n.95+50C= |