Linked Data
ClinVar Variation Id:
2006053
ClinVar RCV Id:
RCV002825672
dbSNP Id:
rs1452516405
gnomAD v3:
1-17044902-A-T
gnomAD v4:
1-17044902-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044902A>T , CM000663.2:g.17044902A>T | GRCh38 |
| NC_000001.10:g.17371397A>T , CM000663.1:g.17371397A>T | GRCh37 |
| NC_000001.9:g.17243984A>T | NCBI36 |
| NG_012340.1:g.14269T>A , LRG_316:g.14269T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-99-14T>A | ENSP00000481376.2:n.-99-14T>A | |
| ENST00000491274.6:c.31-14T>A | ENSP00000480482.2:n.31-14T>A | |
| ENST00000375499.8:c.73-14T>A MANE Select | ENSP00000364649.3:n.73-14T>A | |
| ENST00000375499.7:c.73-14T>A | ENSP00000364649.3:n.73-14T>A | |
| ENST00000463045.2:c.-99-14T>A | ENSP00000481376.1:n.-99-14T>A | |
| ENST00000466613.2:n.85-14T>A | ||
| ENST00000485515.5:n.61-14T>A | ||
| ENST00000491274.5:c.31-14T>A | ENSP00000480482.1:n.31-14T>A | |
| NM_003000.2:c.73-14T>A , LRG_316t1:c.73-14T>A | NP_002991.2:n.73-14T>A | |
| NM_003000.3:c.73-14T>A MANE Select | NP_002991.2:n.73-14T>A |