gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006726 (NFE)
Genomes Max Group AF
0.00007282 (SAS)
Exomes Max Group AF
0.00006874 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91733357G>A , CM000671.2:g.91733357G>A | GRCh38 |
| NC_000009.11:g.94495639G>A , CM000671.1:g.94495639G>A | GRCh37 |
| NC_000009.10:g.93535460G>A | NCBI36 |
| NG_008089.1:g.221806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.702C>T MANE Select | ENSP00000364860.3:p.Phe234= | |
| ENST00000375708.3:c.702C>T | ENSP00000364860.3:p.Phe234= | |
| ENST00000375715.5:c.282C>T | ENSP00000364867.1:p.Phe94= | |
| ENST00000550066.5:n.1170C>T | ||
| NM_004560.3:c.702C>T | NP_004551.2:p.Phe234= | |
| XM_005252008.3:c.282C>T | XP_005252065.1:p.Phe94= | |
| XM_006717121.2:c.282C>T | XP_006717184.1:p.Phe94= | |
| XM_011518721.1:c.282C>T | XP_011517023.1:p.Phe94= | |
| NM_001318204.1:c.702C>T | NP_001305133.1:p.Phe234= | |
| XM_005252008.4:c.282C>T | XP_005252065.1:p.Phe94= | |
| XM_006717121.3:c.282C>T | XP_006717184.1:p.Phe94= | |
| XM_017014762.1:c.693C>T | XP_016870251.1:p.Phe231= | |
| XM_017014763.1:c.282C>T | XP_016870252.1:p.Phe94= | |
| XR_001746315.1:n.945C>T | ||
| NM_004560.4:c.702C>T MANE Select | NP_004551.2:p.Phe234= | |
| NM_001318204.2:c.702C>T | NP_001305133.1:p.Phe234= |