gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47609609 (EAS)
Genomes Max Group AF
0.47628077 (EAS)
Exomes Max Group AF
0.08884008 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103702041C>T , CM000676.2:g.103702041C>T | GRCh38 |
| NC_000014.8:g.104168378C>T , CM000676.1:g.104168378C>T | GRCh37 |
| NC_000014.7:g.103238131C>T | NCBI36 |
| NG_011516.1:g.18446G>A | |
| NG_012307.1:g.77854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555055.6:c.561+1132G>A (XRCC3) MANE Select | ENSP00000452598.1:n.561+1132G>A | |
| ENST00000348520.10:c.*842C>T (KLC1) | ENSP00000341154.6:n.*842C>T | |
| ENST00000352127.11:c.561+1132G>A (XRCC3) | ENSP00000343392.7:n.561+1132G>A | |
| ENST00000553264.5:c.561+1132G>A (XRCC3) | ENSP00000451974.1:n.561+1132G>A | |
| ENST00000554774.1:n.175+1132G>A (XRCC3) | ||
| ENST00000554811.5:n.2008+1132G>A (XRCC3) | ||
| ENST00000554913.5:c.561+1132G>A (XRCC3) | ENSP00000451362.1:n.561+1132G>A | |
| ENST00000554974.5:c.-54-2465G>A (XRCC3) | ENSP00000451361.1:n.-54-2465G>A | |
| ENST00000555055.5:c.561+1132G>A (XRCC3) | ENSP00000452598.1:n.561+1132G>A | |
| ENST00000555451.1:n.155+1132G>A (XRCC3) | ||
| ENST00000555832.1:n.607G>A (XRCC3) | ||
| NM_001100118.1:c.561+1132G>A (XRCC3) | NP_001093588.1:n.561+1132G>A | |
| NM_001100119.1:c.561+1132G>A (XRCC3) | NP_001093589.1:n.561+1132G>A | |
| NM_005432.3:c.561+1132G>A (XRCC3) | NP_005423.1:n.561+1132G>A | |
| XM_005268046.1:c.561+1132G>A (XRCC3) | XP_005268103.1:n.561+1132G>A | |
| XM_011537138.1:c.561+1132G>A (XRCC3) | XP_011535440.1:n.561+1132G>A | |
| XM_005268046.2:c.561+1132G>A (XRCC3) | XP_005268103.1:n.561+1132G>A | |
| XM_011537138.2:c.561+1132G>A (XRCC3) | XP_011535440.1:n.561+1132G>A | |
| XM_024449799.1:c.109C>T | XP_024305567.1:p.Arg37Cys | |
| XM_024449800.1:c.-91C>T | XP_024305568.1:n.-91C>T | |
| XR_002957600.1:n.226C>T | ||
| NM_005432.4:c.561+1132G>A (XRCC3) MANE Select | NP_005423.1:n.561+1132G>A | |
| NM_001100118.2:c.561+1132G>A (XRCC3) | NP_001093588.1:n.561+1132G>A | |
| NM_001100119.2:c.561+1132G>A (XRCC3) | NP_001093589.1:n.561+1132G>A | |
| NM_001371229.1:c.561+1132G>A (XRCC3) | NP_001358158.1:n.561+1132G>A | |
| NM_001371231.1:c.561+1132G>A (XRCC3) | NP_001358160.1:n.561+1132G>A | |
| NM_001371232.1:c.561+1132G>A (XRCC3) | NP_001358161.1:n.561+1132G>A |