gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34482901 (EAS)
Genomes Max Group AF
0.34482901 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152116968T>C , CM000668.2:g.152116968T>C | GRCh38 |
| NC_000006.11:g.152438103T>C , CM000668.1:g.152438103T>C | GRCh37 |
| NC_000006.10:g.152479796T>C | NCBI36 |
| NG_008493.2:g.465278T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641399.1:n.1071-1295T>C | ||
| ENST00000427531.6:c.851-8298T>C | ENSP00000394721.2:n.851-8298T>C | |
| NM_001328100.1:c.851-8298T>C | NP_001315029.1:n.851-8298T>C | |
| NM_001328100.2:c.851-8298T>C | NP_001315029.1:n.851-8298T>C |