Linked Data
dbSNP Id:
rs1559398786
gnomAD v4:
3-39408469-G-T
MyVariant Identifiers:
chr3:g.39449960G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39408469G>T , CM000665.2:g.39408469G>T | GRCh38 |
| NC_000003.11:g.39449960G>T , CM000665.1:g.39449960G>T | GRCh37 |
| NC_000003.10:g.39424964G>T | NCBI36 |
| NG_033234.1:g.6757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458478.6:c.134-137G>T (RPSA) | ENSP00000410848.2:n.134-137G>T | |
| ENST00000478027.3:n.547G>T (RPSA) | ||
| ENST00000697728.1:c.134-137G>T (RPSA) | ENSP00000513422.1:n.134-137G>T | |
| ENST00000697729.1:c.134-137G>T (RPSA) | ENSP00000513423.1:n.134-137G>T | |
| ENST00000697730.1:c.134-137G>T (RPSA) | ENSP00000513424.1:n.134-137G>T | |
| ENST00000697731.1:c.134-137G>T (RPSA) | ENSP00000513425.1:n.134-137G>T | |
| ENST00000697732.1:n.122-137G>T (RPSA) | ||
| ENST00000697753.1:c.134-137G>T (RPSA) | ENSP00000513432.1:n.134-137G>T | |
| ENST00000697816.1:c.*31-137G>T (RPSA) | ENSP00000513451.1:n.*31-137G>T | |
| ENST00000301821.11:c.134-137G>T (RPSA) MANE Select | ENSP00000346067.4:n.134-137G>T | |
| ENST00000301821.10:c.134-137G>T (RPSA) | ENSP00000346067.4:n.134-137G>T | |
| ENST00000443003.2:c.134-137G>T (RPSA) | ENSP00000389351.1:n.134-137G>T | |
| ENST00000444512.2:c.134-137G>T (RPSA) | ENSP00000396716.2:n.134-137G>T | |
| ENST00000458478.5:c.134-137G>T (RPSA) | ENSP00000410848.1:n.134-137G>T | |
| ENST00000477325.1:n.216-137G>T (RPSA) | ||
| ENST00000478027.2:n.266G>T (RPSA) | ||
| NM_001304288.1:c.134-137G>T (RPSA) | NP_001291217.1:n.134-137G>T | |
| NM_002295.5:c.134-137G>T (RPSA) | NP_002286.2:n.134-137G>T | |
| NR_002325.1:n.79G>T (SNORA6) | ||
| NM_002295.6:c.134-137G>T (RPSA) MANE Select | NP_002286.2:n.134-137G>T | |
| NM_001304288.2:c.134-137G>T (RPSA) | NP_001291217.1:n.134-137G>T |