gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110670626C>G , CM000663.2:g.110670626C>G | GRCh38 |
| NC_000001.10:g.111213248C>G , CM000663.1:g.111213248C>G | GRCh37 |
| NC_000001.9:g.111014771C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685980.2:c.*1606+850G>C | ENSP00000513296.1:n.*1606+850G>C | |
| ENST00000697409.1:c.*1606+850G>C | ENSP00000513297.1:n.*1606+850G>C | |
| ENST00000697410.1:c.*1607-797G>C | ENSP00000513298.1:n.*1607-797G>C | |
| ENST00000697411.1:c.1574-2282G>C | ENSP00000513299.1:n.1574-2282G>C | |
| ENST00000697412.1:c.*1606+850G>C | ENSP00000513300.1:n.*1606+850G>C | |
| NR_109845.1:n.219-2282G>C | ||
| NR_109846.1:n.300+850G>C | ||
| XR_001738182.1:n.569-15748C>G | ||
| XR_001738183.1:n.567-15748C>G | ||
| XR_001738184.1:n.573-15748C>G | ||
| XR_001738185.1:n.568-15748C>G | ||
| XR_001738186.1:n.572-15748C>G | ||
| XR_001738187.1:n.570-15748C>G | ||
| NR_109845.2:n.219-2282G>C |