Linked Data
gnomAD v4:
17-47310110-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47310110T>C , CM000679.2:g.47310110T>C | GRCh38 |
| NC_000017.10:g.45387476T>C , CM000679.1:g.45387476T>C | GRCh37 |
| NC_000017.9:g.42742475T>C | NCBI36 |
| NG_008332.2:g.61269T>C , LRG_481:g.61269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559488.7:c.2302-29T>C (ITGB3) MANE Select | ENSP00000452786.2:n.2302-29T>C | |
| ENST00000559488.5:c.2302-29T>C (ITGB3) | ENSP00000452786.1:n.2302-29T>C | |
| ENST00000560629.1:c.2266+2473T>C | ||
| NM_000212.2:c.2302-29T>C , LRG_481t1:c.2302-29T>C (ITGB3) | NP_000203.2:n.2302-29T>C | |
| NR_110880.1:n.363-6328A>G (EFCAB13-DT) | ||
| NR_110881.1:n.227-6328A>G (EFCAB13-DT) | ||
| NM_000212.3:c.2302-29T>C (ITGB3) MANE Select | NP_000203.2:n.2302-29T>C |