gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6972883 (NFE)
Genomes Max Group AF
0.6972883 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40158615T>C , CM000674.2:g.40158615T>C | GRCh38 |
| NC_000012.11:g.40552417T>C , CM000674.1:g.40552417T>C | GRCh37 |
| NC_000012.10:g.38838684T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944863.1:n.312+2272T>C (LINC02471) | ||
| NR_146526.1:n.105+2272T>C (LINC02471) | ||
| XR_001749086.1:n.1326A>G (LINC02555) |