Linked Data
ClinVar Variation Id:
3098398
ClinVar RCV Id:
RCV004392783
dbSNP Id:
rs756319509
ExAC:
5:156592944 G / A
gnomAD v2:
5-156592944-G-A
gnomAD v4:
5-157165933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157165933G>A , CM000667.2:g.157165933G>A | GRCh38 |
| NC_000005.9:g.156592944G>A , CM000667.1:g.156592944G>A | GRCh37 |
| NC_000005.8:g.156525522G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302938.4:c.236C>T (GARIN3) MANE Select | ENSP00000305596.4:p.Pro79Leu | |
| ENST00000521769.5:c.-296-155G>A (ITK) | ENSP00000430327.1:n.-296-155G>A | |
| NM_130899.2:c.236C>T (GARIN3) | NP_570969.2:p.Pro79Leu | |
| NM_130899.3:c.236C>T (GARIN3) MANE Select | NP_570969.2:p.Pro79Leu |