HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160881857C>A , CM000663.2:g.160881857C>A | GRCh38 |
NC_000001.10:g.160851647C>A , CM000663.1:g.160851647C>A | GRCh37 |
NC_000001.9:g.159118271C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326245.4:c.405+100G>T MANE Select | ENSP00000323587.3:n.405+100G>T | |
ENST00000326245.3:c.405+100G>T | ENSP00000323587.3:n.405+100G>T | |
ENST00000464077.1:n.339+100G>T | ||
NM_017625.2:c.405+100G>T | NP_060095.2:n.405+100G>T | |
NM_017625.3:c.405+100G>T MANE Select | NP_060095.2:n.405+100G>T |