Linked Data
dbSNP Id:
rs779088057
ExAC:
3:39450030 G / C
gnomAD v2:
3-39450030-G-C
gnomAD v3:
3-39408539-G-C
gnomAD v4:
3-39408539-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39408539G>C , CM000665.2:g.39408539G>C | GRCh38 |
| NC_000003.11:g.39450030G>C , CM000665.1:g.39450030G>C | GRCh37 |
| NC_000003.10:g.39425034G>C | NCBI36 |
| NG_033234.1:g.6827G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458478.6:c.134-67G>C (RPSA) | ENSP00000410848.2:n.134-67G>C | |
| ENST00000478027.3:n.617G>C (RPSA) | ||
| ENST00000697728.1:c.134-67G>C (RPSA) | ENSP00000513422.1:n.134-67G>C | |
| ENST00000697729.1:c.134-67G>C (RPSA) | ENSP00000513423.1:n.134-67G>C | |
| ENST00000697730.1:c.134-67G>C (RPSA) | ENSP00000513424.1:n.134-67G>C | |
| ENST00000697731.1:c.134-67G>C (RPSA) | ENSP00000513425.1:n.134-67G>C | |
| ENST00000697732.1:n.122-67G>C (RPSA) | ||
| ENST00000697753.1:c.134-67G>C (RPSA) | ENSP00000513432.1:n.134-67G>C | |
| ENST00000697816.1:c.*31-67G>C (RPSA) | ENSP00000513451.1:n.*31-67G>C | |
| ENST00000301821.11:c.134-67G>C (RPSA) MANE Select | ENSP00000346067.4:n.134-67G>C | |
| ENST00000301821.10:c.134-67G>C (RPSA) | ENSP00000346067.4:n.134-67G>C | |
| ENST00000443003.2:c.134-67G>C (RPSA) | ENSP00000389351.1:n.134-67G>C | |
| ENST00000444512.2:c.134-67G>C (RPSA) | ENSP00000396716.2:n.134-67G>C | |
| ENST00000458478.5:c.134-67G>C (RPSA) | ENSP00000410848.1:n.134-67G>C | |
| ENST00000477325.1:n.216-67G>C (RPSA) | ||
| ENST00000478027.2:n.336G>C (RPSA) | ||
| NM_001304288.1:c.134-67G>C (RPSA) | NP_001291217.1:n.134-67G>C | |
| NM_002295.5:c.134-67G>C (RPSA) | NP_002286.2:n.134-67G>C | |
| NR_002325.1:n.149G>C (SNORA6) | ||
| NM_002295.6:c.134-67G>C (RPSA) MANE Select | NP_002286.2:n.134-67G>C | |
| NM_001304288.2:c.134-67G>C (RPSA) | NP_001291217.1:n.134-67G>C |