HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121627029T>G , CM000674.2:g.121627029T>G | GRCh38 |
NC_000012.11:g.122064935T>G , CM000674.1:g.122064935T>G | GRCh37 |
NC_000012.10:g.120549318T>G | NCBI36 |
NG_007500.1:g.5455T>G , LRG_93:g.5455T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698901.1:n.425+96T>G | ||
ENST00000617316.2:c.282T>G | ENSP00000482568.2:p.Ala94= | |
ENST00000646827.1:n.480T>G | ||
ENST00000611718.1:c.93T>G | ENSP00000477953.1:p.Ala31= | |
ENST00000616379.1:c.282T>G | ENSP00000480616.1:p.Ala94= | |
ENST00000617316.1:c.93T>G | ENSP00000482568.1:p.Ala31= | |
NM_032790.3:c.282T>G , LRG_93t1:c.282T>G | NP_116179.2:p.Ala94= |