Linked Data
dbSNP Id:
rs1156701977
gnomAD v2:
X-123480366-G-T
gnomAD v3:
X-124346516-G-T
gnomAD v4:
X-124346516-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346516G>T , CM000685.2:g.124346516G>T | GRCh38 |
| NC_000023.10:g.123480366G>T , CM000685.1:g.123480366G>T | GRCh37 |
| NC_000023.9:g.123308047G>T | NCBI36 |
| NG_007464.1:g.5217G>T , LRG_106:g.5217G>T | |
| NG_033796.2:g.390957G>T , LRG_782:g.390957G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.-127G>T (SH2D1A) | ENSP00000353126.4:n.-127G>T | |
| ENST00000647259.2:c.-127G>T (SH2D1A) | ENSP00000494582.1:n.-127G>T | |
| ENST00000698112.1:n.499-19245G>T (SH2D1A) | ||
| ENST00000698113.1:c.-127G>T (SH2D1A) | ENSP00000513571.1:n.-127G>T | |
| ENST00000698114.1:n.116+30G>T (SH2D1A) | ||
| ENST00000698115.1:n.72+30G>T (SH2D1A) | ||
| ENST00000698116.1:c.-59+30G>T (SH2D1A) | ENSP00000513572.1:n.-59+30G>T | |
| ENST00000647259.1:c.-127G>T (SH2D1A) | ENSP00000494582.1:n.-127G>T | |
| ENST00000371139.8:c.-127G>T (SH2D1A) | ENSP00000360181.4:n.-127G>T | |
| ENST00000469481.1:n.454-65306G>T (STAG2) | ||
| ENST00000635645.1:n.499-19245G>T (SH2D1A) | ||
| NM_001114937.2:c.-127G>T (SH2D1A) | NP_001108409.1:n.-127G>T | |
| NM_002351.4:c.-127G>T , LRG_106t1:c.-127G>T (SH2D1A) | NP_002342.1:n.-127G>T |