gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5385526 (AFR)
Genomes Max Group AF
0.52717945 (AFR)
Exomes Max Group AF
0.54855393 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101476362A>G , CM000673.2:g.101476362A>G | GRCh38 |
| NC_000011.9:g.101347093A>G , CM000673.1:g.101347093A>G | GRCh37 |
| NC_000011.8:g.100852303A>G | NCBI36 |
| NG_011476.1:g.112567T>C | |
| NG_011476.2:g.112567T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.1683T>C MANE Select | ENSP00000340913.3:p.Asn561= | |
| ENST00000344327.7:c.1683T>C | ENSP00000340913.3:p.Asn561= | |
| ENST00000348423.8:c.1335T>C | ENSP00000343672.4:p.Asn445= | |
| ENST00000360497.4:c.1518T>C | ENSP00000353687.4:p.Asn506= | |
| ENST00000532133.5:c.1511-2589T>C | ENSP00000435574.1:n.1511-2589T>C | |
| NM_004621.5:c.1683T>C | NP_004612.2:p.Asn561= | |
| XM_006718898.2:c.1683T>C | XP_006718961.1:p.Asn561= | |
| XM_011542968.1:c.1518T>C | XP_011541270.1:p.Asn506= | |
| XM_011542969.1:c.1683T>C | XP_011541271.1:p.Asn561= | |
| XM_011542968.3:c.1518T>C | XP_011541270.1:p.Asn506= | |
| XM_017018221.2:c.1335T>C | XP_016873710.1:p.Asn445= | |
| XR_001747948.2:n.2039T>C | ||
| NM_004621.6:c.1683T>C MANE Select | NP_004612.2:p.Asn561= |