Linked Data
ClinVar Variation Id:
9042
ClinVar RCV Id:
RCV000009609
dbSNP Id:
rs3821831
ExAC:
3:52853401 C / T
gnomAD v2:
3-52853401-C-T
gnomAD v3:
3-52819385-C-T
gnomAD v4:
3-52819385-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52819385C>T , CM000665.2:g.52819385C>T | GRCh38 |
| NC_000003.11:g.52853401C>T , CM000665.1:g.52853401C>T | GRCh37 |
| NC_000003.10:g.52828441C>T | NCBI36 |
| NG_016006.1:g.16317G>A | |
| NG_016006.2:g.16317G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266041.9:c.2077+8G>A MANE Select | ENSP00000266041.4:n.2077+8G>A | |
| ENST00000266041.8:c.2077+8G>A | ENSP00000266041.4:n.2077+8G>A | |
| ENST00000406595.5:c.1987+8G>A | ENSP00000384425.1:n.1987+8G>A | |
| ENST00000441637.2:c.1559+8G>A | ||
| ENST00000461966.5:n.206+8G>A | ||
| ENST00000468472.1:c.*2599G>A | ENSP00000422253.1:n.*2599G>A | |
| ENST00000481977.5:n.274+8G>A | ||
| ENST00000485816.5:c.2092+8G>A | ENSP00000417824.1:n.2092+8G>A | |
| ENST00000491663.5:n.2269+8G>A | ||
| ENST00000537897.5:n.2109+8G>A | ||
| NM_001166449.1:c.1987+8G>A | NP_001159921.1:n.1987+8G>A | |
| NM_002218.4:c.2077+8G>A | NP_002209.2:n.2077+8G>A | |
| NM_002218.5:c.2077+8G>A MANE Select | NP_002209.2:n.2077+8G>A | |
| NM_001166449.2:c.1987+8G>A | NP_001159921.1:n.1987+8G>A |