gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86794975 (AFR)
Genomes Max Group AF
0.86794975 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11187652G>A , CM000670.2:g.11187652G>A | GRCh38 |
| NC_000008.10:g.11045161G>A , CM000670.1:g.11045161G>A | GRCh37 |
| NC_000008.9:g.11082571G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416569.3:c.764+12924C>T MANE Select | ENSP00000416707.2:n.764+12924C>T | |
| ENST00000416569.2:c.764+12924C>T | ENSP00000416707.2:n.764+12924C>T | |
| ENST00000529336.1:c.259+12924C>T | ||
| NM_173683.3:c.764+12924C>T | NP_775954.2:n.764+12924C>T | |
| XM_011543820.1:c.*31+7439C>T | XP_011542122.1:n.*31+7439C>T | |
| XR_948899.1:n.937+7439C>T | ||
| NR_138152.1:n.922+7439C>T | ||
| NR_138153.1:n.791+12924C>T | ||
| NR_138154.1:n.791+12924C>T | ||
| XM_024447129.1:c.764+12924C>T | XP_024302897.1:n.764+12924C>T | |
| XR_001745511.2:n.965+7439C>T | ||
| XR_948899.3:n.965+7439C>T | ||
| NM_173683.4:c.764+12924C>T MANE Select | NP_775954.2:n.764+12924C>T | |
| NR_138152.2:n.1389+7439C>T | ||
| NR_138153.2:n.1258+12924C>T | ||
| NR_138154.2:n.1258+12924C>T |