Linked Data
dbSNP Id:
rs1016701634
gnomAD v2:
X-123480057-T-C
gnomAD v3:
X-124346207-T-C
gnomAD v4:
X-124346207-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346207T>C , CM000685.2:g.124346207T>C | GRCh38 |
| NC_000023.10:g.123480057T>C , CM000685.1:g.123480057T>C | GRCh37 |
| NC_000023.9:g.123307738T>C | NCBI36 |
| NG_007464.1:g.4908T>C , LRG_106:g.4908T>C | |
| NG_033796.2:g.390648T>C , LRG_782:g.390648T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19554T>C (SH2D1A) | ||
| ENST00000698113.1:c.-436T>C (SH2D1A) | ENSP00000513571.1:n.-436T>C | |
| ENST00000469481.1:n.454-65615T>C (STAG2) | ||
| ENST00000635645.1:n.499-19554T>C (SH2D1A) |