dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10085433 (AFR)
Genomes Max Group AF
0.10086633 (AFR)
Exomes Max Group AF
0.09652011 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29827120G>T , CM000668.2:g.29827120G>T | GRCh38 |
| NC_000006.11:g.29794897G>T , CM000668.1:g.29794897G>T | GRCh37 |
| NC_000006.10:g.29902876G>T | NCBI36 |
| NG_029039.1:g.5142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428701.6:n.66+76G>T | ||
| ENST00000376828.6:c.6+76G>T | ENSP00000366024.2:n.6+76G>T | |
| ENST00000428701.5:c.-113+76G>T | ENSP00000412927.1:n.-113+76G>T | |
| NM_002127.5:c.-113+76G>T | NP_002118.1:n.-113+76G>T | |
| NM_001363567.1:c.6+76G>T | NP_001350496.1:n.6+76G>T | |
| NM_001363567.2:c.6+76G>T | NP_001350496.1:n.6+76G>T | |
| NM_001384280.1:c.6+76G>T | NP_001371209.1:n.6+76G>T | |
| NM_002127.6:c.-113+76G>T | NP_002118.1:n.-113+76G>T |