Linked Data
ClinVar Variation Id:
1265292
ClinVar RCV Id:
RCV001678065
dbSNP Id:
rs9557635
gnomAD v2:
13-102051090-A-G
gnomAD v3:
13-101398739-A-G
gnomAD v4:
13-101398739-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101398739A>G , CM000675.2:g.101398739A>G | GRCh38 |
| NC_000013.10:g.102051090A>G , CM000675.1:g.102051090A>G | GRCh37 |
| NC_000013.9:g.100849091A>G | NCBI36 |
| NG_053176.1:g.23468T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.108+280T>C MANE Select | ENSP00000251127.6:n.108+280T>C | |
| ENST00000376200.6:c.108+280T>C | ENSP00000365373.5:n.108+280T>C | |
| ENST00000648359.1:c.108+280T>C | ENSP00000497465.1:n.108+280T>C | |
| ENST00000674840.1:n.206+280T>C | ||
| ENST00000674904.1:n.272+280T>C | ||
| ENST00000675150.1:c.108+280T>C | ENSP00000502680.1:n.108+280T>C | |
| ENST00000675332.1:c.108+280T>C | ENSP00000501955.1:n.108+280T>C | |
| ENST00000675415.1:n.291+280T>C | ||
| ENST00000675594.1:c.108+280T>C | ENSP00000502490.1:n.108+280T>C | |
| ENST00000675802.1:c.108+280T>C | ENSP00000501818.1:n.108+280T>C | |
| ENST00000676315.1:c.108+280T>C | ENSP00000501603.1:n.108+280T>C | |
| ENST00000676357.1:n.328+280T>C | ||
| ENST00000676439.1:n.282+280T>C | ||
| ENST00000251127.10:c.108+280T>C | ENSP00000251127.6:n.108+280T>C | |
| ENST00000376200.5:c.108+280T>C | ENSP00000365373.5:n.108+280T>C | |
| ENST00000470333.1:n.204+280T>C | ||
| ENST00000497170.5:n.297+280T>C | ||
| NM_052867.2:c.108+280T>C | NP_443099.1:n.108+280T>C | |
| XM_011521067.1:c.165+280T>C | XP_011519369.1:n.165+280T>C | |
| XM_011521068.1:c.108+280T>C | XP_011519370.1:n.108+280T>C | |
| XM_011521069.1:c.165+280T>C | XP_011519371.1:n.165+280T>C | |
| XM_011521070.1:c.165+280T>C | XP_011519372.1:n.165+280T>C | |
| NM_001350748.1:c.108+280T>C | NP_001337677.1:n.108+280T>C | |
| NM_001350749.1:c.108+280T>C | NP_001337678.1:n.108+280T>C | |
| NM_001350750.1:c.108+280T>C | NP_001337679.1:n.108+280T>C | |
| NM_001350751.1:c.108+280T>C | NP_001337680.1:n.108+280T>C | |
| NM_052867.3:c.108+280T>C | NP_443099.1:n.108+280T>C | |
| XM_011521067.2:c.165+280T>C | XP_011519369.1:n.165+280T>C | |
| XM_011521069.2:c.165+280T>C | XP_011519371.1:n.165+280T>C | |
| XM_024449336.1:c.165+280T>C | XP_024305104.1:n.165+280T>C | |
| NM_052867.4:c.108+280T>C MANE Select | NP_443099.1:n.108+280T>C | |
| NM_001350748.2:c.108+280T>C | NP_001337677.1:n.108+280T>C | |
| NM_001350749.2:c.108+280T>C | NP_001337678.1:n.108+280T>C | |
| NM_001350750.2:c.108+280T>C | NP_001337679.1:n.108+280T>C | |
| NM_001350751.2:c.108+280T>C | NP_001337680.1:n.108+280T>C |