gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9616145 (NFE)
Genomes Max Group AF
0.9572574 (NFE)
Exomes Max Group AF
0.96154823 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3076907T>C , CM000668.2:g.3076907T>C | GRCh38 |
| NC_000006.11:g.3077141T>C , CM000668.1:g.3077141T>C | GRCh37 |
| NC_000006.10:g.3022140T>C | NCBI36 |
| NG_063914.1:g.18067T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259808.9:c.84T>C MANE Select | ENSP00000259808.3:p.Phe28= | |
| ENST00000380409.3:c.84T>C | ENSP00000369773.3:p.Phe28= | |
| ENST00000676591.1:c.84T>C | ENSP00000504592.1:p.Phe28= | |
| ENST00000676618.1:c.84T>C | ENSP00000503154.1:p.Phe28= | |
| ENST00000676758.1:n.298T>C | ||
| ENST00000676965.1:c.84T>C | ENSP00000503708.1:p.Phe28= | |
| ENST00000676995.1:n.237T>C | ||
| ENST00000677261.1:n.198-6178T>C | ||
| ENST00000677361.1:c.84T>C | ENSP00000504823.1:p.Phe28= | |
| ENST00000677799.1:c.84T>C | ENSP00000502975.1:p.Phe28= | |
| ENST00000678084.1:n.306T>C | ||
| ENST00000678809.1:c.84T>C | ENSP00000503978.1:p.Phe28= | |
| ENST00000678874.1:c.84T>C | ENSP00000503002.1:p.Phe28= | |
| ENST00000679118.1:c.84T>C | ENSP00000504232.1:p.Phe28= | |
| ENST00000259808.8:c.84T>C | ENSP00000259808.3:p.Phe28= | |
| ENST00000380409.2:c.84T>C | ENSP00000369773.2:p.Phe28= | |
| ENST00000479389.1:n.70-872T>C | ||
| NM_001317061.1:c.-520T>C | NP_001303990.1:n.-520T>C | |
| NM_003804.3:c.84T>C | NP_003795.2:p.Phe28= | |
| NM_003804.4:c.84T>C | NP_003795.2:p.Phe28= | |
| XM_005249457.3:c.84T>C | XP_005249514.2:p.Phe28= | |
| XM_006715237.2:c.84T>C | XP_006715300.2:p.Phe28= | |
| XM_011514969.1:c.84T>C | XP_011513271.1:p.Phe28= | |
| NM_001317061.2:c.-520T>C | NP_001303990.1:n.-520T>C | |
| NM_001354930.1:c.84T>C | NP_001341859.1:p.Phe28= | |
| NM_001354931.1:c.84T>C | NP_001341860.1:p.Phe28= | |
| NM_001354932.1:c.-520T>C | NP_001341861.1:n.-520T>C | |
| NM_001354933.1:c.-520T>C | NP_001341862.1:n.-520T>C | |
| NM_001354934.1:c.-520T>C | NP_001341863.1:n.-520T>C | |
| NM_003804.5:c.84T>C | NP_003795.2:p.Phe28= | |
| XM_006715237.3:c.84T>C | XP_006715300.2:p.Phe28= | |
| XM_017011405.1:c.84T>C | XP_016866894.1:p.Phe28= | |
| NM_001354930.2:c.84T>C MANE Select | NP_001341859.1:p.Phe28= | |
| NM_001317061.3:c.-520T>C | NP_001303990.1:n.-520T>C | |
| NM_001354931.2:c.84T>C | NP_001341860.1:p.Phe28= | |
| NM_001354932.2:c.-520T>C | NP_001341861.1:n.-520T>C | |
| NM_001354933.2:c.-520T>C | NP_001341862.1:n.-520T>C | |
| NM_001354934.2:c.-520T>C | NP_001341863.1:n.-520T>C | |
| NM_003804.6:c.84T>C | NP_003795.2:p.Phe28= |