gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000806 (AFR)
Genomes Max Group AF
0.00000806 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2160530C>T , CM000681.2:g.2160530C>T | GRCh38 |
| NC_000019.9:g.2160529C>T , CM000681.1:g.2160529C>T | GRCh37 |
| NC_000019.8:g.2111529C>T | NCBI36 |
| NG_029793.1:g.1382C>T | |
| NG_052886.2:g.8939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643010.1:c.-103+3826G>A | ENSP00000494100.1:n.-103+3826G>A | |
| ENST00000591284.2:n.110+3826G>A |