Linked Data
gnomAD v4:
17-47310057-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47310057C>T , CM000679.2:g.47310057C>T | GRCh38 |
| NC_000017.10:g.45387423C>T , CM000679.1:g.45387423C>T | GRCh37 |
| NC_000017.9:g.42742422C>T | NCBI36 |
| NG_008332.2:g.61216C>T , LRG_481:g.61216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559488.7:c.2302-82C>T (ITGB3) MANE Select | ENSP00000452786.2:n.2302-82C>T | |
| ENST00000559488.5:c.2302-82C>T (ITGB3) | ENSP00000452786.1:n.2302-82C>T | |
| ENST00000560629.1:c.2266+2420C>T | ||
| NM_000212.2:c.2302-82C>T , LRG_481t1:c.2302-82C>T (ITGB3) | NP_000203.2:n.2302-82C>T | |
| NR_110880.1:n.363-6275G>A (EFCAB13-DT) | ||
| NR_110881.1:n.227-6275G>A (EFCAB13-DT) | ||
| NM_000212.3:c.2302-82C>T (ITGB3) MANE Select | NP_000203.2:n.2302-82C>T |