gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8127599 (NFE)
Genomes Max Group AF
0.8127599 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.88192609T>C , CM000670.2:g.88192609T>C | GRCh38 |
| NC_000008.10:g.89204838T>C , CM000670.1:g.89204838T>C | GRCh37 |
| NC_000008.9:g.89273954T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286614.11:c.281+4549A>G MANE Select | ENSP00000286614.6:n.281+4549A>G | |
| ENST00000286614.10:c.281+4549A>G | ENSP00000286614.6:n.281+4549A>G | |
| ENST00000520568.1:n.331+4549A>G | ||
| ENST00000522726.1:c.332+4549A>G | ENSP00000429147.1:n.332+4549A>G | |
| ENST00000544227.5:n.281+4549A>G | ||
| NM_005941.4:c.281+4549A>G | NP_005932.2:n.281+4549A>G | |
| XM_011517039.1:c.281+4549A>G | XP_011515341.1:n.281+4549A>G | |
| XM_011517040.1:c.281+4549A>G | XP_011515342.1:n.281+4549A>G | |
| XM_011517041.1:c.152+4549A>G | XP_011515343.1:n.152+4549A>G | |
| XM_011517042.1:c.281+4549A>G | XP_011515344.1:n.281+4549A>G | |
| XR_928334.1:n.563+4549A>G | ||
| NM_005941.5:c.281+4549A>G MANE Select | NP_005932.2:n.281+4549A>G |