HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432048T>G , CM000663.2:g.229432048T>G | GRCh38 |
NC_000001.10:g.229567795T>G , CM000663.1:g.229567795T>G | GRCh37 |
NC_000001.9:g.227634418T>G | NCBI36 |
NG_006672.1:g.7049A>C , LRG_429:g.7049A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.754A>C | ENSP00000355644.4:p.Ile252Leu | |
ENST00000684723.1:c.619A>C | ENSP00000508084.1:p.Ile207Leu | |
ENST00000366683.3:c.480-186A>C | ENSP00000355644.3:n.480-186A>C | |
ENST00000366684.7:c.754A>C MANE Select | ENSP00000355645.3:p.Ile252Leu | |
NM_001100.3:c.754A>C , LRG_429t1:c.754A>C | NP_001091.1:p.Ile252Leu | |
NM_001100.4:c.754A>C MANE Select | NP_001091.1:p.Ile252Leu |