gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70366769 (NFE)
Genomes Max Group AF
0.70366769 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43065208A>C , CM000677.2:g.43065208A>C | GRCh38 |
| NC_000015.9:g.43357406A>C , CM000677.1:g.43357406A>C | GRCh37 |
| NC_000015.8:g.41144698A>C | NCBI36 |
| NG_012182.1:g.45881T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.798+2690T>G MANE Select | ENSP00000290650.4:n.798+2690T>G | |
| ENST00000290650.8:c.798+2690T>G | ENSP00000290650.4:n.798+2690T>G | |
| ENST00000546274.6:c.798+2690T>G | ENSP00000477932.1:n.798+2690T>G | |
| ENST00000563239.1:c.*202+5691T>G | ENSP00000456502.1:n.*202+5691T>G | |
| NM_174916.2:c.798+2690T>G | NP_777576.1:n.798+2690T>G | |
| NM_174916.3:c.798+2690T>G MANE Select | NP_777576.1:n.798+2690T>G |