HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432056A>G , CM000663.2:g.229432056A>G | GRCh38 |
NC_000001.10:g.229567803A>G , CM000663.1:g.229567803A>G | GRCh37 |
NC_000001.9:g.227634426A>G | NCBI36 |
NG_006672.1:g.7041T>C , LRG_429:g.7041T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.746T>C | ENSP00000355644.4:p.Val249Ala | |
ENST00000684723.1:c.611T>C | ENSP00000508084.1:p.Val204Ala | |
ENST00000366683.3:c.480-194T>C | ENSP00000355644.3:n.480-194T>C | |
ENST00000366684.7:c.746T>C MANE Select | ENSP00000355645.3:p.Val249Ala | |
NM_001100.3:c.746T>C , LRG_429t1:c.746T>C | NP_001091.1:p.Val249Ala | |
NM_001100.4:c.746T>C MANE Select | NP_001091.1:p.Val249Ala |