HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121627149G>T , CM000674.2:g.121627149G>T | GRCh38 |
NC_000012.11:g.122065055G>T , CM000674.1:g.122065055G>T | GRCh37 |
NC_000012.10:g.120549438G>T | NCBI36 |
NG_007500.1:g.5575G>T , LRG_93:g.5575G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698901.1:n.425+216G>T | ||
ENST00000617316.2:c.303+99G>T | ENSP00000482568.2:n.303+99G>T | |
ENST00000646827.1:n.501+99G>T | ||
ENST00000611718.1:c.213G>T | ENSP00000477953.1:p.Val71= | |
ENST00000616379.1:c.303+99G>T | ENSP00000480616.1:n.303+99G>T | |
ENST00000617316.1:c.114+99G>T | ENSP00000482568.1:n.114+99G>T | |
NM_032790.3:c.303+99G>T , LRG_93t1:c.303+99G>T | NP_116179.2:n.303+99G>T |