Linked Data
gnomAD v4:
X-124346294-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346294C>A , CM000685.2:g.124346294C>A | GRCh38 |
| NC_000023.10:g.123480144C>A , CM000685.1:g.123480144C>A | GRCh37 |
| NC_000023.9:g.123307825C>A | NCBI36 |
| NG_007464.1:g.4995C>A , LRG_106:g.4995C>A | |
| NG_033796.2:g.390735C>A , LRG_782:g.390735C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19467C>A (SH2D1A) | ||
| ENST00000698113.1:c.-349C>A (SH2D1A) | ENSP00000513571.1:n.-349C>A | |
| ENST00000469481.1:n.454-65528C>A (STAG2) | ||
| ENST00000635645.1:n.499-19467C>A (SH2D1A) | ||
| NM_001114937.2:c.-349C>A (SH2D1A) | NP_001108409.1:n.-349C>A | |
| NM_002351.4:c.-349C>A , LRG_106t1:c.-349C>A (SH2D1A) | NP_002342.1:n.-349C>A |