gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52923513 (AFR)
Genomes Max Group AF
0.52923513 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.52086094C>T , CM000682.2:g.52086094C>T | GRCh38 |
| NC_000020.10:g.50702633C>T , CM000682.1:g.50702633C>T | GRCh37 |
| NC_000020.9:g.50136040C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361387.6:c.1229-828G>A | ENSP00000355179.2:n.1229-828G>A | |
| ENST00000371518.6:c.1228+2298G>A | ENSP00000360573.2:n.1228+2298G>A | |
| ENST00000371523.8:c.572-828G>A | ENSP00000360578.4:n.572-828G>A | |
| ENST00000395989.7:c.638-828G>A | ENSP00000379312.3:n.638-828G>A | |
| ENST00000456175.5:c.345-1025G>A | ||
| NM_199427.2:c.1229-828G>A | NP_955459.2:n.1229-828G>A | |
| XM_005260450.1:c.572-828G>A | XP_005260507.1:n.572-828G>A | |
| XM_006723822.1:c.638-828G>A | XP_006723885.1:n.638-828G>A | |
| XR_936849.1:n.2692+2532C>T | ||
| NM_001319146.1:c.572-828G>A | NP_001306075.1:n.572-828G>A | |
| XM_006723822.2:c.638-828G>A | XP_006723885.1:n.638-828G>A | |
| XM_017027945.2:c.1223-828G>A | XP_016883434.1:n.1223-828G>A | |
| XM_017027947.2:c.1067-828G>A | XP_016883436.1:n.1067-828G>A | |
| XR_936849.2:n.61+2532C>T | ||
| NM_001319146.2:c.572-828G>A | NP_001306075.1:n.572-828G>A | |
| NM_199427.3:c.1229-828G>A | NP_955459.2:n.1229-828G>A |