Linked Data
ClinVar Variation Id:
10906
ClinVar RCV Id:
RCV000011653
dbSNP Id:
rs1603236465
gnomAD v4:
X-124346633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346633C>T , CM000685.2:g.124346633C>T | GRCh38 |
| NC_000023.10:g.123480483C>T , CM000685.1:g.123480483C>T | GRCh37 |
| NC_000023.9:g.123308164C>T | NCBI36 |
| NG_007464.1:g.5334C>T , LRG_106:g.5334C>T | |
| NG_033796.2:g.391074C>T , LRG_782:g.391074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.-10C>T (SH2D1A) | ENSP00000353126.4:n.-10C>T | |
| ENST00000647259.2:c.-10C>T (SH2D1A) | ENSP00000494582.1:n.-10C>T | |
| ENST00000698112.1:n.499-19128C>T (SH2D1A) | ||
| ENST00000698113.1:c.-10C>T (SH2D1A) | ENSP00000513571.1:n.-10C>T | |
| ENST00000698114.1:n.116+147C>T (SH2D1A) | ||
| ENST00000698115.1:n.72+147C>T (SH2D1A) | ||
| ENST00000698116.1:c.-10C>T (SH2D1A) | ENSP00000513572.1:n.-10C>T | |
| ENST00000698117.1:c.-10C>T (SH2D1A) | ENSP00000513573.1:n.-10C>T | |
| ENST00000698118.1:c.-10C>T (SH2D1A) | ENSP00000513574.1:n.-10C>T | |
| ENST00000371139.9:c.-10C>T (SH2D1A) MANE Select | ENSP00000360181.5:n.-10C>T | |
| ENST00000647259.1:c.-10C>T (SH2D1A) | ENSP00000494582.1:n.-10C>T | |
| ENST00000360027.4:c.-10C>T (SH2D1A) | ENSP00000353126.4:n.-10C>T | |
| ENST00000371139.8:c.-10C>T (SH2D1A) | ENSP00000360181.4:n.-10C>T | |
| ENST00000469481.1:n.454-65189C>T (STAG2) | ||
| ENST00000477673.2:c.-10C>T (SH2D1A) | ENSP00000477094.1:n.-10C>T | |
| ENST00000491950.5:n.45C>T (SH2D1A) | ||
| ENST00000494073.5:n.45C>T (SH2D1A) | ||
| ENST00000635645.1:n.499-19128C>T (SH2D1A) | ||
| NM_001114937.2:c.-10C>T (SH2D1A) | NP_001108409.1:n.-10C>T | |
| NM_002351.4:c.-10C>T , LRG_106t1:c.-10C>T (SH2D1A) | NP_002342.1:n.-10C>T | |
| NM_002351.5:c.-10C>T (SH2D1A) MANE Select | NP_002342.1:n.-10C>T | |
| NM_001114937.3:c.-10C>T (SH2D1A) | NP_001108409.1:n.-10C>T |