gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01104425 (AFR)
Genomes Max Group AF
0.01138842 (AFR)
Exomes Max Group AF
0.01003786 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3256602G>C , CM000678.2:g.3256602G>C | GRCh38 |
| NC_000016.9:g.3306602G>C , CM000678.1:g.3306602G>C | GRCh37 |
| NC_000016.8:g.3246603G>C | NCBI36 |
| NG_007871.1:g.5026C>G , LRG_190:g.5026C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.-15C>G MANE Select | ENSP00000219596.1:n.-15C>G | |
| ENST00000219596.5:c.-15C>G | ENSP00000219596.1:n.-15C>G | |
| ENST00000339854.8:c.-15C>G | ENSP00000339639.4:n.-15C>G | |
| ENST00000536980.5:c.-15C>G | ENSP00000444178.1:n.-15C>G | |
| ENST00000537682.5:c.-15C>G | ENSP00000438611.1:n.-15C>G | |
| ENST00000538326.5:c.-15C>G | ENSP00000437486.1:n.-15C>G | |
| ENST00000542898.5:c.-15C>G | ENSP00000444615.1:n.-15C>G | |
| NM_000243.2:c.-15C>G , LRG_190t1:c.-15C>G | NP_000234.1:n.-15C>G | |
| NM_001198536.1:c.-15C>G | NP_001185465.1:n.-15C>G | |
| XM_017023236.2:c.-15C>G | XP_016878725.1:n.-15C>G | |
| XR_001751903.1:n.175C>G | ||
| NM_000243.3:c.-15C>G MANE Select | NP_000234.1:n.-15C>G | |
| NM_001198536.2:c.-15C>G | NP_001185465.2:n.-15C>G |