HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117837063C= , CM000670.2:g.117837063C= | GRCh38 |
NC_000008.10:g.118849302C= , CM000670.1:g.118849302C= | GRCh37 |
NC_000008.9:g.118918483C= | NCBI36 |
NG_007455.2:g.279757G= , LRG_493:g.279757G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684189.1:n.523+45G= | ||
ENST00000378204.7:c.1056+45G= MANE Select | ENSP00000367446.3:n.1056+45G= | |
ENST00000436216.2:c.424+45G= | ||
ENST00000378204.6:c.1056+45G= | ENSP00000367446.2:n.1056+45G= | |
ENST00000436216.1:c.424+45G= | ||
ENST00000437196.1:c.74-1512G= | ENSP00000407299.1:n.74-1512G= | |
NM_000127.2:c.1056+45G= , LRG_493t1:c.1056+45G= | NP_000118.2:n.1056+45G= | |
NM_000127.3:c.1056+45G= MANE Select | NP_000118.2:n.1056+45G= |