gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002042 (NFE)
Genomes Max Group AF
0.00001185 (NFE)
Exomes Max Group AF
0.00001907 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80279091C>T , CM000674.2:g.80279091C>T | GRCh38 |
| NC_000012.11:g.80672871C>T , CM000674.1:g.80672871C>T | GRCh37 |
| NC_000012.10:g.79197002C>T | NCBI36 |
| NG_033008.1:g.74639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.2853C>T MANE Select | ENSP00000447211.2:p.Tyr951= | |
| ENST00000646859.1:c.2853C>T | ENSP00000496036.1:p.Tyr951= | |
| ENST00000458043.6:c.2826C>T | ENSP00000400895.2:p.Tyr942= | |
| ENST00000547103.5:c.2826C>T | ENSP00000447211.1:p.Tyr942= | |
| NM_173591.3:c.2826C>T | NP_775862.3:p.Tyr942= | |
| XM_005268802.2:c.2877C>T | XP_005268859.1:p.Tyr959= | |
| XM_011538191.1:c.2877C>T | XP_011536493.1:p.Tyr959= | |
| XM_011538192.1:c.2724C>T | XP_011536494.1:p.Tyr908= | |
| XM_011538193.1:c.2511C>T | XP_011536495.1:p.Tyr837= | |
| XM_005268802.3:c.2877C>T | XP_005268859.1:p.Tyr959= | |
| XM_011538192.2:c.2724C>T | XP_011536494.1:p.Tyr908= | |
| NM_001368062.1:c.2826C>T | NP_001354991.1:p.Tyr942= | |
| NM_001368062.3:c.2853C>T | NP_001354991.2:p.Tyr951= | |
| NM_001378609.3:c.2853C>T MANE Select | NP_001365538.2:p.Tyr951= | |
| NM_001378610.3:c.2853C>T | NP_001365539.2:p.Tyr951= | |
| NM_173591.7:c.2853C>T | NP_775862.4:p.Tyr951= |