gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45226095 (AFR)
Genomes Max Group AF
0.45226095 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.107604872T>C , CM000675.2:g.107604872T>C | GRCh38 |
| NC_000013.10:g.108257220T>C , CM000675.1:g.108257220T>C | GRCh37 |
| NC_000013.9:g.107055221T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375915.4:c.915+260810A>G MANE Select | ENSP00000365080.1:n.915+260810A>G | |
| ENST00000375915.3:c.915+260810A>G | ENSP00000365080.1:n.915+260810A>G | |
| NM_001080396.2:c.915+260810A>G | NP_001073865.1:n.915+260810A>G | |
| XM_011521109.1:c.915+260810A>G | XP_011519411.1:n.915+260810A>G | |
| XM_011521109.3:c.915+260810A>G | XP_011519411.1:n.915+260810A>G | |
| NM_001080396.3:c.915+260810A>G MANE Select | NP_001073865.1:n.915+260810A>G |