HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431719A>G , CM000663.2:g.229431719A>G | GRCh38 |
NC_000001.10:g.229567466A>G , CM000663.1:g.229567466A>G | GRCh37 |
NC_000001.9:g.227634089A>G | NCBI36 |
NG_006672.1:g.7378T>C , LRG_429:g.7378T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.990+2T>C | ENSP00000355644.4:n.990+2T>C | |
ENST00000684723.1:c.855+2T>C | ENSP00000508084.1:n.855+2T>C | |
ENST00000366683.3:c.621+2T>C | ENSP00000355644.3:n.621+2T>C | |
ENST00000366684.7:c.990+2T>C MANE Select | ENSP00000355645.3:n.990+2T>C | |
NM_001100.3:c.990+2T>C , LRG_429t1:c.990+2T>C | NP_001091.1:n.990+2T>C | |
NM_001100.4:c.990+2T>C MANE Select | NP_001091.1:n.990+2T>C |