gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83666803 (AFR)
Genomes Max Group AF
0.83666803 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.54576470G>T , CM000677.2:g.54576470G>T | GRCh38 |
| NC_000015.9:g.54868668G>T , CM000677.1:g.54868668G>T | GRCh37 |
| NC_000015.8:g.52655960G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260323.16:c.6106+8523G>T MANE Select | ENSP00000260323.11:n.6106+8523G>T | |
| ENST00000647821.1:c.6100+8523G>T | ENSP00000497525.1:n.6100+8523G>T | |
| ENST00000260323.15:c.6106+8523G>T | ENSP00000260323.11:n.6106+8523G>T | |
| NM_001080534.1:c.6106+8523G>T | NP_001074003.1:n.6106+8523G>T | |
| XM_005254394.3:c.6106+8523G>T | XP_005254451.1:n.6106+8523G>T | |
| XM_005254395.3:c.6028+8523G>T | XP_005254452.1:n.6028+8523G>T | |
| NM_001080534.2:c.6106+8523G>T | NP_001074003.1:n.6106+8523G>T | |
| NM_001329919.1:c.6100+8523G>T | NP_001316848.1:n.6100+8523G>T | |
| XM_005254394.5:c.6106+8523G>T | XP_005254451.1:n.6106+8523G>T | |
| XM_017022220.1:c.6106+8523G>T | XP_016877709.1:n.6106+8523G>T | |
| XM_017022221.1:c.6106+8523G>T | XP_016877710.1:n.6106+8523G>T | |
| XM_017022222.1:c.6106+8523G>T | XP_016877711.1:n.6106+8523G>T | |
| XM_017022223.1:c.6100+8523G>T | XP_016877712.1:n.6100+8523G>T | |
| XM_017022225.1:c.3004+8523G>T | XP_016877714.1:n.3004+8523G>T | |
| XR_001751291.1:n.12285+8523G>T | ||
| NM_001329919.2:c.6100+8523G>T | NP_001316848.1:n.6100+8523G>T | |
| NM_001080534.3:c.6106+8523G>T MANE Select | NP_001074003.1:n.6106+8523G>T |