gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19513433 (MID)
Genomes Max Group AF
0.19478249 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.88107455C>A , CM000670.2:g.88107455C>A | GRCh38 |
| NC_000008.10:g.89119683C>A , CM000670.1:g.89119683C>A | GRCh37 |
| NC_000008.9:g.89188799C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286614.11:c.1083+9052G>T MANE Select | ENSP00000286614.6:n.1083+9052G>T | |
| ENST00000286614.10:c.1083+9052G>T | ENSP00000286614.6:n.1083+9052G>T | |
| ENST00000544227.5:n.1083+9052G>T | ||
| NM_005941.4:c.1083+9052G>T | NP_005932.2:n.1083+9052G>T | |
| XM_011517039.1:c.1083+9052G>T | XP_011515341.1:n.1083+9052G>T | |
| XM_011517040.1:c.1083+9052G>T | XP_011515342.1:n.1083+9052G>T | |
| XM_011517041.1:c.954+9052G>T | XP_011515343.1:n.954+9052G>T | |
| XM_011517042.1:c.1083+9052G>T | XP_011515344.1:n.1083+9052G>T | |
| XR_928334.1:n.1365+9052G>T | ||
| XM_024447154.1:c.294+9052G>T | XP_024302922.1:n.294+9052G>T | |
| NM_005941.5:c.1083+9052G>T MANE Select | NP_005932.2:n.1083+9052G>T |