HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431641A>G , CM000663.2:g.229431641A>G | GRCh38 |
NC_000001.10:g.229567388A>G , CM000663.1:g.229567388A>G | GRCh37 |
NC_000001.9:g.227634011A>G | NCBI36 |
NG_006672.1:g.7456T>C , LRG_429:g.7456T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.991-77T>C | ENSP00000355644.4:n.991-77T>C | |
ENST00000684723.1:c.857T>C | ENSP00000508084.1:p.Ile286Thr | |
ENST00000366683.3:c.623T>C | ENSP00000355644.3:p.Ile208Thr | |
ENST00000366684.7:c.992T>C MANE Select | ENSP00000355645.3:p.Ile331Thr | |
NM_001100.3:c.992T>C , LRG_429t1:c.992T>C | NP_001091.1:p.Ile331Thr | |
NM_001100.4:c.992T>C MANE Select | NP_001091.1:p.Ile331Thr |