Linked Data
dbSNP Id:
rs2235751
gnomAD v2:
20-1969934-A-G
gnomAD v3:
20-1989288-A-G
gnomAD v4:
20-1989288-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1989288A>G , CM000682.2:g.1989288A>G | GRCh38 |
| NC_000020.10:g.1969934A>G , CM000682.1:g.1969934A>G | GRCh37 |
| NC_000020.9:g.1917934A>G | NCBI36 |
| NG_028027.1:g.9958T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217305.3:c.-20+3296T>C (PDYN) MANE Select | ENSP00000217305.2:n.-20+3296T>C | |
| ENST00000650824.1:c.-20+3296T>C (PDYN) | ENSP00000499095.1:n.-20+3296T>C | |
| ENST00000650874.1:c.-20+4623T>C (PDYN) | ENSP00000498438.1:n.-20+4623T>C | |
| ENST00000650937.1:c.-20+3296T>C (PDYN) | ENSP00000498947.1:n.-20+3296T>C | |
| ENST00000651882.1:c.-17+3296T>C (PDYN) | ENSP00000498752.1:n.-17+3296T>C | |
| ENST00000217305.2:c.-20+3296T>C (PDYN) | ENSP00000217305.2:n.-20+3296T>C | |
| ENST00000539905.5:c.-20+4623T>C (PDYN) | ENSP00000440185.1:n.-20+4623T>C | |
| ENST00000540134.5:c.-20+3296T>C (PDYN) | ENSP00000442259.1:n.-20+3296T>C | |
| NM_001190892.1:c.-20+3296T>C (PDYN) | NP_001177821.1:n.-20+3296T>C | |
| NM_001190898.2:c.-17+3296T>C (PDYN) | NP_001177827.1:n.-17+3296T>C | |
| NM_001190899.2:c.-20+4623T>C (PDYN) | NP_001177828.1:n.-20+4623T>C | |
| NM_001190900.1:c.-20+3296T>C (PDYN) | NP_001177829.1:n.-20+3296T>C | |
| NM_024411.4:c.-20+3296T>C (PDYN) | NP_077722.1:n.-20+3296T>C | |
| XR_244229.1:n.1217-17644A>G (PDYN-AS1) | ||
| NR_134520.1:n.1253-17644A>G (PDYN-AS1) | ||
| NM_024411.5:c.-20+3296T>C (PDYN) MANE Select | NP_077722.1:n.-20+3296T>C | |
| NM_001190898.3:c.-17+3296T>C (PDYN) | NP_001177827.1:n.-17+3296T>C |