gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37382946 (AFR)
Genomes Max Group AF
0.37382946 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131488780T>C , CM000668.2:g.131488780T>C | GRCh38 |
| NC_000006.11:g.131809920T>C , CM000668.1:g.131809920T>C | GRCh37 |
| NC_000006.10:g.131851613T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672052.1:n.118+17831T>C | ||
| ENST00000672233.1:c.-43+17831T>C | ENSP00000499826.1:n.-43+17831T>C | |
| ENST00000673234.1:c.-43+17831T>C | ENSP00000499885.1:n.-43+17831T>C |