gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49825631 (NFE)
Genomes Max Group AF
0.49825631 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10196143C>T , CM000681.2:g.10196143C>T | GRCh38 |
| NC_000019.9:g.10306819C>T , CM000681.1:g.10306819C>T | GRCh37 |
| NC_000019.8:g.10167819C>T | NCBI36 |
| NG_028016.3:g.40144G>A , LRG_362:g.40144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586800.5:c.-284+4731G>A | ENSP00000465555.1:n.-284+4731G>A | |
| ENST00000588118.5:c.11-1089G>A | ENSP00000465223.1:n.11-1089G>A | |
| ENST00000588952.5:c.-283-14066G>A | ENSP00000467050.1:n.-283-14066G>A | |
| ENST00000592342.5:c.-283-14066G>A | ENSP00000465993.1:n.-283-14066G>A |