gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16677406 (EAS)
Genomes Max Group AF
0.16716909 (EAS)
Exomes Max Group AF
0.16374841 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6294720G>T , CM000666.2:g.6294720G>T | GRCh38 |
| NC_000004.11:g.6296447G>T , CM000666.1:g.6296447G>T | GRCh37 |
| NC_000004.10:g.6347348G>T | NCBI36 |
| NG_011700.1:g.29871G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.713-285G>T | ENSP00000507852.1:n.713-285G>T | |
| ENST00000683395.1:c.690-321G>T | ||
| ENST00000684087.1:c.713-321G>T | ENSP00000506978.1:n.713-321G>T | |
| ENST00000506362.2:c.464-321G>T | ENSP00000424103.2:n.464-321G>T | |
| ENST00000673642.1:c.512-321G>T | ENSP00000501242.1:n.512-321G>T | |
| ENST00000673991.1:c.713-285G>T | ENSP00000501033.1:n.713-285G>T | |
| ENST00000226760.5:c.713-321G>T MANE Select | ENSP00000226760.1:n.713-321G>T | |
| ENST00000503569.5:c.713-321G>T | ENSP00000423337.1:n.713-321G>T | |
| ENST00000506362.1:c.310-285G>T | ||
| ENST00000507765.1:n.898-321G>T | ||
| NM_001145853.1:c.713-321G>T | NP_001139325.1:n.713-321G>T | |
| NM_006005.3:c.713-321G>T MANE Select | NP_005996.2:n.713-321G>T | |
| XM_017008586.1:c.722-321G>T | XP_016864075.1:n.722-321G>T |