Linked Data
ClinVar Variation Id:
3098406
ClinVar RCV Id:
RCV004392791
dbSNP Id:
rs182205268
ExAC:
5:156592647 G / A
gnomAD v2:
5-156592647-G-A
gnomAD v3:
5-157165636-G-A
gnomAD v4:
5-157165636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157165636G>A , CM000667.2:g.157165636G>A | GRCh38 |
| NC_000005.9:g.156592647G>A , CM000667.1:g.156592647G>A | GRCh37 |
| NC_000005.8:g.156525225G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302938.4:c.533C>T (GARIN3) MANE Select | ENSP00000305596.4:p.Pro178Leu | |
| ENST00000521769.5:c.-296-452G>A (ITK) | ENSP00000430327.1:n.-296-452G>A | |
| NM_130899.2:c.533C>T (GARIN3) | NP_570969.2:p.Pro178Leu | |
| NM_130899.3:c.533C>T (GARIN3) MANE Select | NP_570969.2:p.Pro178Leu |