gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83486963 (AFR)
Genomes Max Group AF
0.83486963 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18387998T>G , CM000681.2:g.18387998T>G | GRCh38 |
| NC_000019.9:g.18498808T>G , CM000681.1:g.18498808T>G | GRCh37 |
| NC_000019.8:g.18359808T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.278-288T>G | ENSP00000470531.3:n.278-288T>G | |
| ENST00000597765.2:c.278-288T>G | ENSP00000469819.2:n.278-288T>G | |
| ENST00000252809.3:c.278-288T>G MANE Select | ENSP00000252809.3:n.278-288T>G | |
| ENST00000594925.1:n.96-288T>G | ||
| ENST00000595973.2:c.278-288T>G | ENSP00000470531.2:n.278-288T>G | |
| NM_004864.2:c.278-288T>G | NP_004855.2:n.278-288T>G | |
| NM_004864.3:c.278-288T>G | NP_004855.2:n.278-288T>G | |
| XM_024451789.1:c.278-288T>G | XP_024307557.1:n.278-288T>G | |
| NM_004864.4:c.278-288T>G MANE Select | NP_004855.2:n.278-288T>G |