Linked Data
ClinVar Variation Id:
3098399
ClinVar RCV Id:
RCV004392784
dbSNP Id:
rs201700898
ExAC:
5:156592905 G / C
gnomAD v2:
5-156592905-G-C
gnomAD v3:
5-157165894-G-C
gnomAD v4:
5-157165894-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157165894G>C , CM000667.2:g.157165894G>C | GRCh38 |
| NC_000005.9:g.156592905G>C , CM000667.1:g.156592905G>C | GRCh37 |
| NC_000005.8:g.156525483G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302938.4:c.275C>G (GARIN3) MANE Select | ENSP00000305596.4:p.Pro92Arg | |
| ENST00000521769.5:c.-296-194G>C (ITK) | ENSP00000430327.1:n.-296-194G>C | |
| NM_130899.2:c.275C>G (GARIN3) | NP_570969.2:p.Pro92Arg | |
| NM_130899.3:c.275C>G (GARIN3) MANE Select | NP_570969.2:p.Pro92Arg |