gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429763C>T , CM000671.2:g.37429763C>T | GRCh38 |
| NC_000009.11:g.37429760C>T , CM000671.1:g.37429760C>T | GRCh37 |
| NC_000009.10:g.37419760C>T | NCBI36 |
| NG_008135.1:g.12054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.525C>T MANE Select | ENSP00000313432.6:p.Phe175= | |
| ENST00000318158.10:c.525C>T | ENSP00000313432.6:p.Phe175= | |
| ENST00000377824.8:n.562C>T | ||
| ENST00000460882.5:n.552C>T | ||
| ENST00000480596.5:n.1226C>T | ||
| ENST00000491488.5:n.230C>T | ||
| ENST00000494290.1:c.96C>T | ENSP00000432021.1:p.Phe32= | |
| ENST00000497693.1:n.2058C>T | ||
| ENST00000607784.1:c.525C>T | ENSP00000475569.1:p.Phe175= | |
| NM_012203.1:c.525C>T | NP_036335.1:p.Phe175= | |
| XM_005251631.1:c.204C>T | XP_005251688.1:p.Phe68= | |
| XM_011518073.1:c.123C>T | XP_011516375.1:p.Phe41= | |
| XR_929374.1:n.970C>T | ||
| XM_017015320.2:c.525C>T | XP_016870809.1:p.Phe175= | |
| XM_017015321.2:c.525C>T | XP_016870810.1:p.Phe175= | |
| XM_017015323.2:c.123C>T | XP_016870812.1:p.Phe41= | |
| XM_024447716.1:c.798C>T | XP_024303484.1:p.Phe266= | |
| XM_024447717.1:c.798C>T | XP_024303485.1:p.Phe266= | |
| XR_002956828.1:n.813C>T | ||
| XR_002956829.1:n.813C>T | ||
| XR_002956830.1:n.584C>T | ||
| XR_002956831.1:n.259C>T | ||
| XR_002956832.1:n.944C>T | ||
| NM_012203.2:c.525C>T MANE Select | NP_036335.1:p.Phe175= |