gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23215779 (AFR)
Genomes Max Group AF
0.23215779 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59367748T>C , CM000679.2:g.59367748T>C | GRCh38 |
| NC_000017.10:g.57445109T>C , CM000679.1:g.57445109T>C | GRCh37 |
| NC_000017.9:g.54799891T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312655.9:c.117+14222T>C MANE Select | ENSP00000312272.4:n.117+14222T>C | |
| ENST00000672916.2:c.216+14222T>C | ENSP00000500006.2:n.216+14222T>C | |
| ENST00000312655.8:c.117+14222T>C | ENSP00000312272.4:n.117+14222T>C | |
| ENST00000581865.1:n.137-20579T>C | ||
| ENST00000585166.1:c.117+14222T>C | ENSP00000464285.1:n.117+14222T>C | |
| NM_001005404.3:c.117+14222T>C | NP_001005404.1:n.117+14222T>C | |
| XM_017024621.1:c.117+14222T>C | XP_016880110.1:n.117+14222T>C | |
| NM_001005404.4:c.117+14222T>C MANE Select | NP_001005404.1:n.117+14222T>C |