Linked Data
ClinVar Variation Id:
261709
ClinVar RCV Id:
RCV000246241
RCV000837111
RCV002244658
RCV002244659
RCV002244660
RCV002244661
RCV002244662
dbSNP Id:
rs1799937
ExAC:
11:32410774 A / G
gnomAD v2:
11-32410774-A-G
gnomAD v3:
11-32389228-A-G
gnomAD v4:
11-32389228-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32389228A>G , CM000673.2:g.32389228A>G | GRCh38 |
| NC_000011.9:g.32410774A>G , CM000673.1:g.32410774A>G | GRCh37 |
| NC_000011.8:g.32367350A>G | NCBI36 |
| NG_009272.1:g.51314T>C , LRG_525:g.51314T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1388-49T>C | ENSP00000331327.5:n.1388-49T>C | |
| ENST00000379077.9:c.*632-49T>C | ENSP00000368368.5:n.*632-49T>C | |
| ENST00000379079.8:c.788-49T>C | ENSP00000368370.2:n.788-49T>C | |
| ENST00000448076.9:c.1439-49T>C | ENSP00000413452.5:n.1439-49T>C | |
| ENST00000452863.10:c.1448-49T>C MANE Select | ENSP00000415516.5:n.1448-49T>C | |
| ENST00000526685.2:n.893-49T>C | ||
| ENST00000639563.3:c.1397-49T>C | ENSP00000492269.3:n.1397-49T>C | |
| ENST00000639907.2:n.582-49T>C | ||
| ENST00000640146.2:c.773-49T>C | ENSP00000491984.2:n.773-49T>C | |
| ENST00000650745.1:n.1258-49T>C | ||
| ENST00000650861.1:n.2020-49T>C | ||
| ENST00000650986.1:n.111-49T>C | ||
| ENST00000651459.1:c.219-49T>C | ||
| ENST00000651533.1:n.485-49T>C | ||
| ENST00000651668.1:n.385-49T>C | ||
| ENST00000651794.1:n.1291-49T>C | ||
| ENST00000651819.1:n.373-49T>C | ||
| ENST00000652579.1:n.708-49T>C | ||
| ENST00000652724.1:n.638-49T>C | ||
| ENST00000332351.7:c.1433-49T>C | ENSP00000331327.3:n.1433-49T>C | |
| ENST00000379077.7:c.*632-49T>C | ENSP00000368368.3:n.*632-49T>C | |
| ENST00000379079.6:c.788-49T>C | ENSP00000368370.2:n.788-49T>C | |
| ENST00000448076.7:c.1424-49T>C | ENSP00000413452.3:n.1424-49T>C | |
| ENST00000452863.7:c.1373-49T>C | ENSP00000415516.3:n.1373-49T>C | |
| ENST00000527882.5:c.414-49T>C | ||
| ENST00000530998.5:c.746-49T>C | ENSP00000435307.1:n.746-49T>C | |
| NM_000378.4:c.1373-49T>C | NP_000369.3:n.1373-49T>C | |
| NM_001198551.1:c.788-49T>C , LRG_525t2:c.788-49T>C | NP_001185480.1:n.788-49T>C | |
| NM_001198552.1:c.746-49T>C | NP_001185481.1:n.746-49T>C | |
| NM_024424.3:c.1424-49T>C | NP_077742.2:n.1424-49T>C | |
| NM_024426.4:c.1433-49T>C | NP_077744.3:n.1433-49T>C | |
| NM_000378.5:c.1388-49T>C | NP_000369.4:n.1388-49T>C | |
| NM_024424.4:c.1439-49T>C | NP_077742.3:n.1439-49T>C | |
| NM_024426.5:c.1448-49T>C | NP_077744.4:n.1448-49T>C | |
| NM_001367854.1:c.260-49T>C | NP_001354783.1:n.260-49T>C | |
| NR_160306.1:n.1780-49T>C | ||
| NM_000378.6:c.1388-49T>C | NP_000369.4:n.1388-49T>C | |
| NM_001198552.2:c.746-49T>C | NP_001185481.1:n.746-49T>C | |
| NM_024424.5:c.1439-49T>C | NP_077742.3:n.1439-49T>C | |
| NM_024426.6:c.1448-49T>C MANE Select | NP_077744.4:n.1448-49T>C |