HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121627098C>G , CM000674.2:g.121627098C>G | GRCh38 |
NC_000012.11:g.122065004C>G , CM000674.1:g.122065004C>G | GRCh37 |
NC_000012.10:g.120549387C>G | NCBI36 |
NG_007500.1:g.5524C>G , LRG_93:g.5524C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698901.1:n.425+165C>G | ||
ENST00000617316.2:c.303+48C>G | ENSP00000482568.2:n.303+48C>G | |
ENST00000646827.1:n.501+48C>G | ||
ENST00000611718.1:c.162C>G | ENSP00000477953.1:p.Leu54= | |
ENST00000616379.1:c.303+48C>G | ENSP00000480616.1:n.303+48C>G | |
ENST00000617316.1:c.114+48C>G | ENSP00000482568.1:n.114+48C>G | |
NM_032790.3:c.303+48C>G , LRG_93t1:c.303+48C>G | NP_116179.2:n.303+48C>G |