gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16412396 (NFE)
Genomes Max Group AF
0.16412396 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11310036C>T , CM000678.2:g.11310036C>T | GRCh38 |
| NC_000016.9:g.11403893C>T , CM000678.1:g.11403893C>T | GRCh37 |
| NC_000016.8:g.11311394C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+60258C>T | ||
| ENST00000572173.1:c.-436-2793C>T | ENSP00000461206.1:n.-436-2793C>T | |
| ENST00000573910.1:n.161-6416C>T | ||
| XR_933070.1:n.733+60258C>T | ||
| XR_933070.3:n.876+60258C>T |