gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20653038 (AFR)
Genomes Max Group AF
0.20653038 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48900594T>C , CM000677.2:g.48900594T>C | GRCh38 |
| NC_000015.9:g.49192791T>C , CM000677.1:g.49192791T>C | GRCh37 |
| NC_000015.8:g.46980083T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332408.9:c.657-9783A>G MANE Select | ENSP00000329668.4:n.657-9783A>G | |
| ENST00000332408.8:c.657-9783A>G | ENSP00000329668.4:n.657-9783A>G | |
| NM_203349.3:c.657-9783A>G | NP_976224.3:n.657-9783A>G | |
| XM_005254375.2:c.108-9783A>G | XP_005254432.1:n.108-9783A>G | |
| XM_011521552.1:c.69-9783A>G | XP_011519854.1:n.69-9783A>G | |
| XM_005254375.3:c.108-9783A>G | XP_005254432.1:n.108-9783A>G | |
| NM_203349.4:c.657-9783A>G MANE Select | NP_976224.3:n.657-9783A>G |