gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86534129 (AFR)
Genomes Max Group AF
0.86534129 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69377293G>T , CM000674.2:g.69377293G>T | GRCh38 |
| NC_000012.11:g.69771073G>T , CM000674.1:g.69771073G>T | GRCh37 |
| NC_000012.10:g.68057340G>T | NCBI36 |
| NG_052956.1:g.22584G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247843.7:c.514+6318G>T MANE Select | ENSP00000247843.2:n.514+6318G>T | |
| ENST00000247843.6:c.514+6318G>T | ENSP00000247843.2:n.514+6318G>T | |
| ENST00000548020.5:c.352+6318G>T | ENSP00000447199.1:n.352+6318G>T | |
| NM_001300950.1:c.352+6318G>T | NP_001287879.1:n.352+6318G>T | |
| NM_006530.3:c.514+6318G>T | NP_006521.1:n.514+6318G>T | |
| XR_944742.1:n.787+6318G>T | ||
| XR_001748876.1:n.782+6318G>T | ||
| XR_944742.3:n.782+6318G>T | ||
| NM_006530.4:c.514+6318G>T MANE Select | NP_006521.1:n.514+6318G>T | |
| NM_001300950.2:c.352+6318G>T | NP_001287879.1:n.352+6318G>T |