gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2806546 (EAS)
Genomes Max Group AF
0.28447133 (EAS)
Exomes Max Group AF
0.27883847 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168990902A>G , CM000664.2:g.168990902A>G | GRCh38 |
| NC_000002.11:g.169847412A>G , CM000664.1:g.169847412A>G | GRCh37 |
| NC_000002.10:g.169555658A>G | NCBI36 |
| NG_007374.1:g.45422T>C | |
| NG_007374.2:g.45495T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650372.1:c.807T>C MANE Select | ENSP00000497931.1:p.Tyr269= | |
| ENST00000263817.6:c.807T>C | ENSP00000263817.6:p.Tyr269= | |
| NM_003742.2:c.807T>C | NP_003733.2:p.Tyr269= | |
| XM_006712817.2:c.849T>C | XP_006712880.1:p.Tyr283= | |
| XM_011512077.1:c.909T>C | XP_011510379.1:p.Tyr303= | |
| XM_011512078.1:c.909T>C | XP_011510380.1:p.Tyr303= | |
| XM_011512079.1:c.909T>C | XP_011510381.1:p.Tyr303= | |
| XM_011512080.1:c.909T>C | XP_011510382.1:p.Tyr303= | |
| NM_003742.4:c.807T>C MANE Select | NP_003733.2:p.Tyr269= | |
| XM_006712817.3:c.849T>C | XP_006712880.1:p.Tyr283= | |
| XM_011512077.2:c.909T>C | XP_011510379.1:p.Tyr303= | |
| XM_011512078.2:c.909T>C | XP_011510380.1:p.Tyr303= | |
| XM_011512080.2:c.909T>C | XP_011510382.1:p.Tyr303= | |
| XM_017005165.1:c.909T>C | XP_016860654.1:p.Tyr303= | |
| XM_017005166.1:c.138T>C | XP_016860655.1:p.Tyr46= |