gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003472 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63480479C>T , CM000679.2:g.63480479C>T | GRCh38 |
| NC_000017.10:g.61557840C>T , CM000679.1:g.61557840C>T | GRCh37 |
| NC_000017.9:g.58911572C>T | NCBI36 |
| NG_011648.1:g.8407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.798C>T MANE Select | ENSP00000290866.4:p.Tyr266= | |
| ENST00000290866.9:c.798C>T | ENSP00000290866.4:p.Tyr266= | |
| ENST00000428043.5:c.798C>T | ENSP00000397593.2:p.Tyr266= | |
| ENST00000582627.1:c.798C>T | ENSP00000462280.1:p.Tyr266= | |
| ENST00000582678.5:c.*197C>T | ENSP00000462995.1:n.*197C>T | |
| ENST00000584529.5:n.832C>T | ||
| NM_000789.3:c.798C>T | NP_000780.1:p.Tyr266= | |
| XM_005257110.1:c.249C>T | XP_005257167.1:p.Tyr83= | |
| NM_000789.4:c.798C>T MANE Select | NP_000780.1:p.Tyr266= | |
| NM_001382700.1:c.325C>T | NP_001369629.1:p.Arg109Trp | |
| NM_001382701.1:c.-55C>T | NP_001369630.1:n.-55C>T |