gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065539 (AFR)
Genomes Max Group AF
0.00072849 (AFR)
Exomes Max Group AF
0.00004833 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460829T>C , CM000674.2:g.80460829T>C | GRCh38 |
| NC_000012.11:g.80849348A>G , CM000674.1:g.80849348A>G | GRCh37 |
| NC_000012.10:g.79373479A>G | NCBI36 |
| NG_034052.1:g.21484T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.837T>C MANE Select | ENSP00000495607.1:p.Tyr279= | |
| ENST00000614701.4:c.837T>C | ENSP00000482885.1:p.Tyr279= | |
| ENST00000616559.4:c.963T>C | ENSP00000483259.1:p.Tyr321= | |
| NM_001145026.1:c.837T>C | NP_001138498.1:p.Tyr279= | |
| XM_011538290.1:c.837T>C | XP_011536592.1:p.Tyr279= | |
| XM_017019273.1:c.1503T>C | XP_016874762.1:p.Tyr501= | |
| XM_017019274.1:c.1503T>C | XP_016874763.1:p.Tyr501= | |
| XM_017019275.1:c.1503T>C | XP_016874764.1:p.Tyr501= | |
| XR_001748688.1:n.1640T>C | ||
| XR_001748689.1:n.1640T>C | ||
| NM_001145026.2:c.837T>C MANE Select | NP_001138498.1:p.Tyr279= |