Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157162671T>A , CM000667.2:g.157162671T>A | GRCh38 |
| NC_000005.9:g.156589682T>A , CM000667.1:g.156589682T>A | GRCh37 |
| NC_000005.8:g.156522260T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302938.4:c.1594A>T (GARIN3) MANE Select | ENSP00000305596.4:p.Ser532Cys | |
| ENST00000521769.5:c.-296-3417T>A (ITK) | ENSP00000430327.1:n.-296-3417T>A | |
| NM_130899.2:c.1594A>T (GARIN3) | NP_570969.2:p.Ser532Cys | |
| NM_130899.3:c.1594A>T (GARIN3) MANE Select | NP_570969.2:p.Ser532Cys |