gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22087171 (AFR)
Genomes Max Group AF
0.22087171 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34651116G>A , CM000668.2:g.34651116G>A | GRCh38 |
| NC_000006.11:g.34618893G>A , CM000668.1:g.34618893G>A | GRCh37 |
| NC_000006.10:g.34726871G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374023.8:c.313+3509C>T MANE Select | ENSP00000363135.3:n.313+3509C>T | |
| ENST00000374021.1:c.91+3509C>T | ENSP00000363133.1:n.91+3509C>T | |
| ENST00000374023.7:c.313+3509C>T | ENSP00000363135.3:n.313+3509C>T | |
| ENST00000374026.7:c.313+3509C>T | ENSP00000363138.3:n.313+3509C>T | |
| NM_022758.5:c.313+3509C>T | NP_073595.2:n.313+3509C>T | |
| NM_024294.3:c.313+3509C>T | NP_077270.1:n.313+3509C>T | |
| XM_005249298.1:c.313+3509C>T | XP_005249355.1:n.313+3509C>T | |
| XR_926300.1:n.512+3509C>T | ||
| XM_005249298.3:c.313+3509C>T | XP_005249355.1:n.313+3509C>T | |
| XR_926300.3:n.475+3509C>T | ||
| NM_024294.4:c.313+3509C>T MANE Select | NP_077270.1:n.313+3509C>T | |
| NM_022758.6:c.313+3509C>T | NP_073595.2:n.313+3509C>T |