gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44775605 (EAS)
Genomes Max Group AF
0.44791279 (EAS)
Exomes Max Group AF
0.1264594 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13277203C>T , CM000673.2:g.13277203C>T | GRCh38 |
| NC_000011.9:g.13298750C>T , CM000673.1:g.13298750C>T | GRCh37 |
| NC_000011.8:g.13255326C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529050.5:c.-82+131C>T | ENSP00000434044.1:n.-82+131C>T | |
| ENST00000534544.5:c.-208+131C>T | ENSP00000431566.1:n.-208+131C>T | |
| XR_931047.1:n.370G>A | ||
| NM_001351804.1:c.-263+131C>T | NP_001338733.1:n.-263+131C>T | |
| XM_011520105.3:c.48+131C>T | XP_011518407.2:n.48+131C>T | |
| XM_011520107.3:c.48+131C>T | XP_011518409.2:n.48+131C>T | |
| XM_017017738.2:c.48+131C>T | XP_016873227.1:n.48+131C>T | |
| XM_017017739.2:c.48+131C>T | XP_016873228.1:n.48+131C>T | |
| XR_001747876.2:n.521+131C>T | ||
| XR_002957147.1:n.521+131C>T | ||
| XR_002957148.1:n.521+131C>T |