gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38740051 (AFR)
Genomes Max Group AF
0.38858503 (AFR)
Exomes Max Group AF
0.38245457 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101039260T>C , CM000673.2:g.101039260T>C | GRCh38 |
| NC_000011.9:g.100909991T>C , CM000673.1:g.100909991T>C | GRCh37 |
| NC_000011.8:g.100415201T>C | NCBI36 |
| NG_016475.1:g.95554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.2658A>G MANE Select | ENSP00000325120.5:p.Gln886= | |
| ENST00000263463.9:c.2352A>G | ENSP00000263463.5:p.Gln784= | |
| ENST00000325455.9:c.2658A>G | ENSP00000325120.5:p.Gln886= | |
| ENST00000526300.5:c.2221A>G | ENSP00000436803.1:n.2221A>G | |
| ENST00000528960.5:c.2489A>G | ENSP00000432914.1:n.2489A>G | |
| ENST00000533207.5:n.2025A>G | ||
| ENST00000534013.5:c.876A>G | ENSP00000436561.1:p.Gln292= | |
| ENST00000534780.5:c.2606A>G | ENSP00000432352.1:n.2606A>G | |
| NM_000926.4:c.2658A>G MANE Select | NP_000917.3:p.Gln886= | |
| NM_001202474.3:c.2166A>G | NP_001189403.1:p.Gln722= | |
| NM_001271161.2:c.1860A>G | NP_001258090.1:p.Gln620= | |
| NM_001271162.1:c.876A>G | NP_001258091.1:p.Gln292= | |
| NR_073141.2:n.2599A>G | ||
| NR_073142.2:n.2482A>G | ||
| NR_073143.2:n.2214A>G | ||
| NM_001271162.2:c.876A>G | NP_001258091.1:p.Gln292= | |
| NR_073141.3:n.2613A>G | ||
| NR_073142.3:n.2496A>G | ||
| NR_073143.3:n.2228A>G |