HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431733G>C , CM000663.2:g.229431733G>C | GRCh38 |
NC_000001.10:g.229567480G>C , CM000663.1:g.229567480G>C | GRCh37 |
NC_000001.9:g.227634103G>C | NCBI36 |
NG_006672.1:g.7364C>G , LRG_429:g.7364C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.978C>G | ENSP00000355644.4:p.Thr326= | |
ENST00000684723.1:c.843C>G | ENSP00000508084.1:p.Thr281= | |
ENST00000366683.3:c.609C>G | ENSP00000355644.3:p.Thr203= | |
ENST00000366684.7:c.978C>G MANE Select | ENSP00000355645.3:p.Thr326= | |
NM_001100.3:c.978C>G , LRG_429t1:c.978C>G | NP_001091.1:p.Thr326= | |
NM_001100.4:c.978C>G MANE Select | NP_001091.1:p.Thr326= |