gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30660376 (AFR)
Genomes Max Group AF
0.30660376 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43852624G>A , CM000684.2:g.43852624G>A | GRCh38 |
| NC_000022.10:g.44248504G>A , CM000684.1:g.44248504G>A | GRCh37 |
| NC_000022.9:g.42579837G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330884.9:c.169+9590C>T MANE Select | ENSP00000332565.4:n.169+9590C>T | |
| ENST00000330884.8:c.169+9590C>T | ENSP00000332565.4:n.169+9590C>T | |
| ENST00000422525.1:c.169+9590C>T | ENSP00000388285.1:n.169+9590C>T | |
| ENST00000432404.5:c.169+9590C>T | ENSP00000414220.1:n.169+9590C>T | |
| NM_014351.3:c.169+9590C>T | NP_055166.1:n.169+9590C>T | |
| XM_011530120.1:c.169+9590C>T | XP_011528422.1:n.169+9590C>T | |
| XM_011530121.1:c.169+9590C>T | XP_011528423.1:n.169+9590C>T | |
| XR_937838.1:n.219+9590C>T | ||
| XR_937839.1:n.219+9590C>T | ||
| XM_011530120.3:c.169+9590C>T | XP_011528422.1:n.169+9590C>T | |
| XR_001755207.1:n.219+9590C>T | ||
| XR_937838.2:n.219+9590C>T | ||
| XR_937839.3:n.221+9590C>T | ||
| NM_014351.4:c.169+9590C>T MANE Select | NP_055166.1:n.169+9590C>T |