Linked Data
dbSNP Id:
rs755791045
ExAC:
X:123480509 T / G
gnomAD v2:
X-123480509-T-G
gnomAD v4:
X-124346659-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346659T>G , CM000685.2:g.124346659T>G | GRCh38 |
| NC_000023.10:g.123480509T>G , CM000685.1:g.123480509T>G | GRCh37 |
| NC_000023.9:g.123308190T>G | NCBI36 |
| NG_007464.1:g.5360T>G , LRG_106:g.5360T>G | |
| NG_033796.2:g.391100T>G , LRG_782:g.391100T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.17T>G (SH2D1A) | ENSP00000353126.4:p.Val6Gly | |
| ENST00000647259.2:c.17T>G (SH2D1A) | ENSP00000494582.1:p.Val6Gly | |
| ENST00000698112.1:n.499-19102T>G (SH2D1A) | ||
| ENST00000698113.1:c.17T>G (SH2D1A) | ENSP00000513571.1:p.Val6Gly | |
| ENST00000698114.1:n.116+173T>G (SH2D1A) | ||
| ENST00000698115.1:n.72+173T>G (SH2D1A) | ||
| ENST00000698116.1:c.17T>G (SH2D1A) | ENSP00000513572.1:p.Val6Gly | |
| ENST00000698117.1:c.17T>G (SH2D1A) | ENSP00000513573.1:p.Val6Gly | |
| ENST00000698118.1:c.17T>G (SH2D1A) | ENSP00000513574.1:p.Val6Gly | |
| ENST00000371139.9:c.17T>G (SH2D1A) MANE Select | ENSP00000360181.5:p.Val6Gly | |
| ENST00000647259.1:c.17T>G (SH2D1A) | ENSP00000494582.1:p.Val6Gly | |
| ENST00000360027.4:c.17T>G (SH2D1A) | ENSP00000353126.4:p.Val6Gly | |
| ENST00000371139.8:c.17T>G (SH2D1A) | ENSP00000360181.4:p.Val6Gly | |
| ENST00000469481.1:n.454-65163T>G (STAG2) | ||
| ENST00000477673.2:c.17T>G (SH2D1A) | ENSP00000477094.1:p.Val6Gly | |
| ENST00000491950.5:n.71T>G (SH2D1A) | ||
| ENST00000494073.5:n.71T>G (SH2D1A) | ||
| ENST00000635645.1:n.499-19102T>G (SH2D1A) | ||
| NM_001114937.2:c.17T>G (SH2D1A) | NP_001108409.1:p.Val6Gly | |
| NM_002351.4:c.17T>G , LRG_106t1:c.17T>G (SH2D1A) | NP_002342.1:p.Val6Gly | |
| NM_002351.5:c.17T>G (SH2D1A) MANE Select | NP_002342.1:p.Val6Gly | |
| NM_001114937.3:c.17T>G (SH2D1A) | NP_001108409.1:p.Val6Gly |