gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93930244 (AFR)
Genomes Max Group AF
0.93930244 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36813252G>C , CM000684.2:g.36813252G>C | GRCh38 |
| NC_000022.10:g.37209296G>C , CM000684.1:g.37209296G>C | GRCh37 |
| NC_000022.9:g.35539242G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417718.7:c.304+394C>G MANE Select | ENSP00000400247.2:n.304+394C>G | |
| ENST00000216200.9:c.304+394C>G | ENSP00000216200.5:n.304+394C>G | |
| ENST00000404171.1:c.208+394C>G | ENSP00000386089.1:n.208+394C>G | |
| ENST00000406910.6:c.300+394C>G | ||
| ENST00000417718.6:c.304+394C>G | ENSP00000400247.2:n.304+394C>G | |
| NM_001315532.1:c.304+394C>G | NP_001302461.1:n.304+394C>G | |
| NM_002854.2:c.304+394C>G | NP_002845.1:n.304+394C>G | |
| XM_011530288.1:c.304+394C>G | XP_011528590.1:n.304+394C>G | |
| NM_001315532.2:c.304+394C>G MANE Select | NP_001302461.1:n.304+394C>G | |
| NM_002854.3:c.304+394C>G | NP_002845.1:n.304+394C>G |