HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121627183T>C , CM000674.2:g.121627183T>C | GRCh38 |
NC_000012.11:g.122065089T>C , CM000674.1:g.122065089T>C | GRCh37 |
NC_000012.10:g.120549472T>C | NCBI36 |
NG_007500.1:g.5609T>C , LRG_93:g.5609T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698901.1:n.425+250T>C | ||
ENST00000617316.2:c.303+133T>C | ENSP00000482568.2:n.303+133T>C | |
ENST00000646827.1:n.501+133T>C | ||
ENST00000611718.1:c.238+9T>C | ENSP00000477953.1:n.238+9T>C | |
ENST00000616379.1:c.303+133T>C | ENSP00000480616.1:n.303+133T>C | |
ENST00000617316.1:c.114+133T>C | ENSP00000482568.1:n.114+133T>C | |
NM_032790.3:c.303+133T>C , LRG_93t1:c.303+133T>C | NP_116179.2:n.303+133T>C |