Linked Data
ClinVar Variation Id:
495210
ClinVar RCV Id:
RCV000585793
dbSNP Id:
rs1379672870
gnomAD v4:
1-45511416-T-A
PubMed:
PMID:29302025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45511416T>A , CM000663.2:g.45511416T>A | GRCh38 |
| NC_000001.10:g.45977088T>A , CM000663.1:g.45977088T>A | GRCh37 |
| NC_000001.9:g.45749675T>A | NCBI36 |
| NG_013378.1:g.16233T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319248.13:c.515-2A>T (PRDX1) MANE Select | ENSP00000361152.5:n.515-2A>T | |
| ENST00000401061.9:c.*2201T>A (MMACHC) MANE Select | ENSP00000383840.4:n.*2201T>A | |
| ENST00000424390.2:c.515-2A>T (PRDX1) | ENSP00000389047.2:n.515-2A>T | |
| ENST00000447184.6:c.515-2A>T (PRDX1) | ENSP00000407034.2:n.515-2A>T | |
| ENST00000676549.1:c.515-2A>T (PRDX1) | ENSP00000503140.1:n.515-2A>T | |
| ENST00000262746.5:c.515-2A>T (PRDX1) | ENSP00000262746.1:n.515-2A>T | |
| ENST00000319248.12:c.515-2A>T (PRDX1) | ENSP00000361152.5:n.515-2A>T | |
| ENST00000372079.1:c.209-2A>T (PRDX1) | ENSP00000361150.1:n.209-2A>T | |
| ENST00000401061.8:c.*2201T>A (MMACHC) | ENSP00000383840.4:n.*2201T>A | |
| NM_001202431.1:c.515-2A>T (PRDX1) | NP_001189360.1:n.515-2A>T | |
| NM_002574.3:c.515-2A>T (PRDX1) | NP_002565.1:n.515-2A>T | |
| NM_181696.2:c.515-2A>T (PRDX1) | NP_859047.1:n.515-2A>T | |
| NM_181697.2:c.515-2A>T (PRDX1) | NP_859048.1:n.515-2A>T | |
| NM_015506.3:c.*2201T>A (MMACHC) MANE Select | NP_056321.2:n.*2201T>A | |
| NM_181697.3:c.515-2A>T (PRDX1) MANE Select | NP_859048.1:n.515-2A>T | |
| NM_001330540.2:c.*2201T>A (MMACHC) | NP_001317469.1:n.*2201T>A | |
| NM_001202431.2:c.515-2A>T (PRDX1) | NP_001189360.1:n.515-2A>T | |
| NM_002574.4:c.515-2A>T (PRDX1) | NP_002565.1:n.515-2A>T | |
| NM_181696.3:c.515-2A>T (PRDX1) | NP_859047.1:n.515-2A>T |