Linked Data
ClinVar Variation Id:
1169457
dbSNP Id:
rs148554414
ExAC:
X:123480499 G / T
gnomAD v2:
X-123480499-G-T
gnomAD v3:
X-124346649-G-T
gnomAD v4:
X-124346649-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346649G>T , CM000685.2:g.124346649G>T | GRCh38 |
| NC_000023.10:g.123480499G>T , CM000685.1:g.123480499G>T | GRCh37 |
| NC_000023.9:g.123308180G>T | NCBI36 |
| NG_007464.1:g.5350G>T , LRG_106:g.5350G>T | |
| NG_033796.2:g.391090G>T , LRG_782:g.391090G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.7G>T (SH2D1A) | ENSP00000353126.4:p.Ala3Ser | |
| ENST00000647259.2:c.7G>T (SH2D1A) | ENSP00000494582.1:p.Ala3Ser | |
| ENST00000698112.1:n.499-19112G>T (SH2D1A) | ||
| ENST00000698113.1:c.7G>T (SH2D1A) | ENSP00000513571.1:p.Ala3Ser | |
| ENST00000698114.1:n.116+163G>T (SH2D1A) | ||
| ENST00000698115.1:n.72+163G>T (SH2D1A) | ||
| ENST00000698116.1:c.7G>T (SH2D1A) | ENSP00000513572.1:p.Ala3Ser | |
| ENST00000698117.1:c.7G>T (SH2D1A) | ENSP00000513573.1:p.Ala3Ser | |
| ENST00000698118.1:c.7G>T (SH2D1A) | ENSP00000513574.1:p.Ala3Ser | |
| ENST00000371139.9:c.7G>T (SH2D1A) MANE Select | ENSP00000360181.5:p.Ala3Ser | |
| ENST00000647259.1:c.7G>T (SH2D1A) | ENSP00000494582.1:p.Ala3Ser | |
| ENST00000360027.4:c.7G>T (SH2D1A) | ENSP00000353126.4:p.Ala3Ser | |
| ENST00000371139.8:c.7G>T (SH2D1A) | ENSP00000360181.4:p.Ala3Ser | |
| ENST00000469481.1:n.454-65173G>T (STAG2) | ||
| ENST00000477673.2:c.7G>T (SH2D1A) | ENSP00000477094.1:p.Ala3Ser | |
| ENST00000491950.5:n.61G>T (SH2D1A) | ||
| ENST00000494073.5:n.61G>T (SH2D1A) | ||
| ENST00000635645.1:n.499-19112G>T (SH2D1A) | ||
| NM_001114937.2:c.7G>T (SH2D1A) | NP_001108409.1:p.Ala3Ser | |
| NM_002351.4:c.7G>T , LRG_106t1:c.7G>T (SH2D1A) | NP_002342.1:p.Ala3Ser | |
| NM_002351.5:c.7G>T (SH2D1A) MANE Select | NP_002342.1:p.Ala3Ser | |
| NM_001114937.3:c.7G>T (SH2D1A) | NP_001108409.1:p.Ala3Ser |