HGVS | Genome Assembly |
---|---|
NC_000006.12:g.116592975T>G , CM000668.2:g.116592975T>G | GRCh38 |
NC_000006.11:g.116914138T>G , CM000668.1:g.116914138T>G | GRCh37 |
NC_000006.10:g.117020831T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000466444.7:c.611-5T>G MANE Select | ENSP00000420357.2:n.611-5T>G | |
ENST00000466444.6:c.611-5T>G | ENSP00000420357.2:n.611-5T>G | |
ENST00000487832.6:c.323-5T>G | ENSP00000428778.1:n.323-5T>G | |
NM_001007464.2:c.323-5T>G | NP_001007465.1:n.323-5T>G | |
NM_015952.3:c.611-5T>G | NP_057036.2:n.611-5T>G | |
NM_016104.3:c.323-5T>G | NP_057188.2:n.323-5T>G | |
NM_015952.4:c.611-5T>G MANE Select | NP_057036.2:n.611-5T>G | |
NM_001007464.3:c.323-5T>G | NP_001007465.1:n.323-5T>G | |
NM_016104.4:c.323-5T>G | NP_057188.2:n.323-5T>G |