gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50626855G>A , CM000684.2:g.50626855G>A | GRCh38 |
| NC_000022.10:g.51065283G>A , CM000684.1:g.51065283G>A | GRCh37 |
| NC_000022.9:g.49412149G>A | NCBI36 |
| NG_009260.2:g.6325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216124.10:c.663C>T MANE Select | ENSP00000216124.5:p.Phe221= | |
| ENST00000216124.9:c.663C>T | ENSP00000216124.5:p.Phe221= | |
| ENST00000356098.9:c.663C>T | ENSP00000348406.5:p.Phe221= | |
| ENST00000395619.3:c.663C>T | ENSP00000378981.3:p.Phe221= | |
| ENST00000395621.7:c.663C>T | ENSP00000378983.3:p.Phe221= | |
| ENST00000453344.6:c.405C>T | ENSP00000412542.2:p.Phe135= | |
| ENST00000551731.1:n.1167C>T | ||
| NM_000487.5:c.663C>T | NP_000478.3:p.Phe221= | |
| NM_001085425.2:c.663C>T | NP_001078894.2:p.Phe221= | |
| NM_001085426.2:c.663C>T | NP_001078895.2:p.Phe221= | |
| NM_001085427.2:c.663C>T | NP_001078896.2:p.Phe221= | |
| NM_001085428.2:c.405C>T | NP_001078897.1:p.Phe135= | |
| XM_011530690.1:c.405C>T | XP_011528992.1:p.Phe135= | |
| XM_011530691.1:c.663C>T | XP_011528993.1:p.Phe221= | |
| NM_001362782.1:c.405C>T | NP_001349711.1:p.Phe135= | |
| XM_011530691.3:c.663C>T | XP_011528993.1:p.Phe221= | |
| XM_017028800.1:c.663C>T | XP_016884289.1:p.Phe221= | |
| XM_024452241.1:c.663C>T | XP_024308009.1:p.Phe221= | |
| NM_000487.6:c.663C>T MANE Select | NP_000478.3:p.Phe221= | |
| NM_001085425.3:c.663C>T | NP_001078894.2:p.Phe221= | |
| NM_001085426.3:c.663C>T | NP_001078895.2:p.Phe221= | |
| NM_001085427.3:c.663C>T | NP_001078896.2:p.Phe221= | |
| NM_001085428.3:c.405C>T | NP_001078897.1:p.Phe135= | |
| NM_001362782.2:c.405C>T | NP_001349711.1:p.Phe135= |