HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32112369A>G , CM000668.2:g.32112369A>G | GRCh38 |
NC_000006.11:g.32080146A>G , CM000668.1:g.32080146A>G | GRCh37 |
NC_000006.10:g.32188124A>G | NCBI36 |
NG_008337.2:g.2006T>C |
HGVS | Amino-acid Change |
---|---|
ENST00000442721.1:c.-9+2625T>C (TNXB) | ENSP00000389946.1:n.-9+2625T>C |
ENST00000494022.1:n.289+4335T>C (ATF6B) |